Genetic polymorphisms associated with rheumatoid arthritis, methods of detection and uses thereof

ABSTRACT

The present invention provides compositions and methods based on genetic polymorphisms that are associated with autoimmune disease, particularly rheumatoid arthritis. For example, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by these nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and variant proteins, and methods of using the nucleic acid molecules and proteins as well as methods of using reagents for their detection.

FIELD OF THE INVENTION

The present invention is in the field of autoimmune disease,particularly rheumatoid arthritis (RA). In particular, the presentinvention relates to specific single nucleotide polymorphisms (SNPs) inthe human genome, and their association with autoimmune disease,particularly RA. The SNPs disclosed herein can be used as targets forthe design of diagnostic reagents and the development of therapeuticagents, as well as for disease association and linkage analysis. Inparticular, the SNPs of the present invention are useful for such usesas identifying an individual who has an increased or decreased risk ofdeveloping autoimmune disease (particularly RA), for early detection ofthe disease, for providing clinically important information for theprevention and/or treatment of autoimmune disease, for predictingprogression or recurrence of autoimmune disease, for predicting theseriousness or consequences of autoimmune disease in an individual, fordetermining the prognosis of an individual's recovery from autoimmunedisease, for screening and selecting therapeutic agents, and forpredicting a patient's response to therapeutic agents such as evaluatingthe likelihood of an individual responding positively to tumor necrosisfactor (TNF) inhibitors, particularly for the treatment or prevention ofautoimmune disease (such as RA). The SNPs disclosed herein are alsouseful for human identification applications. Methods, assays, kits, andreagents for detecting the presence of these polymorphisms and theirencoded products are provided.

BACKGROUND OF THE INVENTION

Autoimmune Diseases & Rheumatoid Arthritis (RA)

Autoimmune diseases are a major health issue, occurring in up to 3% ofthe general population (Cooper & Stroehla, 2003, Autoimmunity Rev.2:119-125). Although the clinical phenotypes of these diseases aredistinct, they share certain common elements, including geographicaldistributions, population frequencies, therapeutic strategies, and someclinical features which suggest potential similarities in the underlyingmechanisms of these diseases. Furthermore, the aggregation of multipleautoimmune diseases in the same individual or family supports thepresence of common environmental and genetic factors that predispose anindividual to autoimmunity (Vyse & Todd, 1996, Cell 85:311-318; Cooper &Stroehla, 2003, Autoimmunity Rev. 2:119-125; Ueda et al., 2003, Nature423:506-511).

Inflammatory disorders are related to autoimmune disease. Examples ofautoimmune and inflammatory diseases include rheumatoid arthritis, type1 diabetes, multiple sclerosis, systemic lupus erythematosus,inflammatory bowel diseases, psoriasis, thyroiditis, celiac disease,pernicious anemia, asthma, vitiligo, glomerulonephritis, Graves'disease, myocarditis, Sjogren disease, and primary systemic vasculitis.

Rheumatoid arthritis (RA) is one of the most common autoimmune diseases,with a prevalence of between 0.5-1% in most adult populations. It isfound worldwide and affects all ethnic groups, although it is morecommon in Europe and the United States than in Asia (Abdel-Nasser etal., 1997, Semin. Arthritis Rheum. 27:123-140; Silman & Hochberg, 1993,Rheumatoid Arthritis, Epidemiology of the Rheumatic Diseases, OxfordUniversity Press, pp. 7-68) and there is a gradient in Europe with ahigher prevalence in the north (Cimmino et al., 1998, Ann. Rheum.Diseases 57:315-318). RA can also occur in any age group. Onset istypically between the ages of 40 and 60 years, and the incidenceincreases with age until approximately 70-80 years, at which point itdeclines (Abdel-Nasser et al., 1997, Semin. Arthritis Rheum. 27:123-140; Silman & Hochberg, 1993, Epidemiology of the RheumaticDiseases. Oxford University Press. pp. 7-68). RA is two to three timesmore common in women than men, depending on age (Linos et al., 1980, J.Chronic Diseases 33:73-77). The observations that (i) women in thepostpartum period are at increased risk for RA onset and (ii) women withRA commonly experience remission during pregnancy followed by postpartumrelapse (Barrett et al., 1999, Arhritis Rheum. 42:1219-1227) suggestthat hormones play a role in disease onset.

RA is a chronic, progressive disease characterized by the infiltrationof activated lymphocytes and macrophages into the synovial lining of theaffected joint. These cells produce cytokines and degradative enzymes,which mediate inflammation and destruction of the joint architecture,often leading to permanent disability. RA is a systemic disease;extra-articular manifestations are often present and can range fromrelatively minor problems, such as rheumatoid nodules, tolife-threatening organ disease.

Clinically, RA varies from a very mild to a severely disabling diseasewith upwards of one in 20 patients progressing to severe, erosivedisease. Joint damage occurs early in disease with the greatestprogression to joint abnormalities taking place during the first sixyears. Within three years of disease onset, as many as 70% of patientsshow some radiographic evidence of joint damage (Lipsky et al., 1994,Rheumatoid Arthritis, Harrison's Principles of Internal Medicine, 13thed. New York, McGraw-Hill, Inc., pp. 1648-1655). At present, there is nocure for RA, and the joint damage is irreversible.

Although the course of RA is highly variable, most patients withclinical, persistent RA eventually develop debilitating joint damage anddeformation, resulting in progressive functional limitation.Consequently, RA is considered a highly disabling disease with aconsiderable economic impact that some liken to that of coronary arterydisease (Allaire et al., 1994, Pharmacoeconomics 6:513-522). A 1993study in the U.S. estimated total annual direct costs of $5275 perpatient with indirect costs as high as $21,000 per year (Merkesdal etal., 2001, Arthritis Rheum. 44:528-534).

RA is thought to be precipitated by the interplay of environmental andgenetic factors. Although several environmental triggers have beensuggested, such as infection (Harris, 1990, N. Engl. J. Med.322:1277-1289), immunization (Symmons and Chakravarty, 1993, Ann. Rheum.Dis. 52:843-844), diet (Shapiro et al., 1996, Epidemiology 7:256-263),and smoking (Symmons et al., 1997, Arthritis Rheum. 40:1955-1961), nonehave been established. A genetic component to RA susceptibility has longbeen indicated by data from twin and family studies. It is estimatedthat the concordance between monozygotic twins is in the range of 12-15%while the prevalence in siblings of RA probands is approximately 2-4%,both well above the estimated background population prevalence of 0.5-1%(Seldin et al., 1999, Arthritis Rheum. 42:1071-1079). From these data,the disease heritability has been estimated at approximately 60%(MacGregor et al., 2000, Arthritis Rheum. 43:30-37) while the relativerecurrence risk for siblings (λs) of probands with RA is estimated atbetween 5 and 10 (Seldin et al. 1999; Jawaheer et al., 2001, Am. J. Hum.Genet. 68:927-936).

The increasing availability of specific therapies that can halt diseaseprogression has magnified the need for accurate early diagnosis of RA(Maini et al., 1999, Lancet 354:1932-1939; Lipsky et al., 2000, N. Engl.J. Med. 343: 1594-1602; Weinblatt et al., 1999, N. Engl. J. Med. 340:253-259). The most commonly used diagnostic criteria are those adoptedby the American College of Rheumatology in 1987 (Arnett et al., 1988,Arthritis Rheum. 31: 315-324), which are based on a combination ofclinical, laboratory and radiological assessments. A patient isclassified as having RA if he or she satisfies at least four of thefollowing seven criteria: (i) morning stiffness lasting at least onehour; (ii) arthritis of three or more joint areas; (iii) arthritis ofhand joints; (iv) symmetric arthritis; (v) rheumatoid nodules; (vi)presence of serum rheumatoid factor (RF); and (vii) radiographic changesin hand or wrist joints. Using these criteria, a trained rheumatologistcan usually diagnose RA in individuals who have had disease for morethan 12 weeks (Harrison et al., 1998, J. Rheumatol. 25: 2324-2330).However, these criteria are largely ineffective for patients duringearly stages of the disease, such as during the first 12 weeks ofdisease (Green et al., 1999, Arthritis Rheum. 42: 2184-2188), duringwhich time irreversible joint damage has already begun, and cannotpredict which patients will develop severe erosive disease and thereforebenefit from aggressive early disease modifying therapy.

Early initiation of therapy can provide considerable benefit, not onlyby reducing pain and inflammation but also by reducing or eliminatingthe loss of function that accompanies persistent RA, especially whentherapy is administered prior to the occurrence of irreversible jointdamage. Consequently, there is a need for novel diagnostic markers that,for example, enable the detection of RA, particularly at an early stage,or that enable the identification of individuals who are predisposed todeveloping RA.

Single Nucleotide Polymorphisms (SNPs)

The genomes of all organisms undergo spontaneous mutation in the courseof their continuing evolution, generating variant forms of progenitorgenetic sequences. Gusella, Ann Rev Biochem 55:831-854 (1986). A variantform may confer an evolutionary advantage or disadvantage relative to aprogenitor form or may be neutral. In some instances, a variant formconfers an evolutionary advantage to individual members of a species andis eventually incorporated into the DNA of many or most members of thespecies and effectively becomes the progenitor form. Additionally, theeffects of a variant form may be both beneficial and detrimental,depending on the environment. For example, a heterozygous sickle cellmutation confers resistance to malaria, but a homozygous sickle cellmutation is usually lethal. In many cases, both progenitor and variantforms survive and co-exist in a species population. The coexistence ofmultiple forms of a genetic sequence segregating at appreciablefrequencies is defined as a genetic polymorphism, which includes singlenucleotide polymorphisms (SNPs).

Approximately 90% of all genetic polymorphisms in the human genome areSNPs. SNPs are single base positions in DNA at which different alleles,or alternative nucleotides, exist in a population. The SNP position(interchangeably referred to herein as SNP, SNP site, SNP locus, SNPmarker, or marker) is usually preceded by and followed by highlyconserved sequences of the allele (e.g., sequences that vary in lessthan 1/100 or 1/1000 members of the populations). An individual may behomozygous or heterozygous for an allele at each SNP position. A SNPcan, in some instances, be referred to as a “cSNP” to denote that thenucleotide sequence containing the SNP is an amino acid coding sequence.

A SNP may arise from a substitution of one nucleotide for another at thepolymorphic site. Substitutions can be transitions or transversions. Atransition is the replacement of one purine nucleotide by another purinenucleotide, or one pyrimidine by another pyrimidine. A transversion isthe replacement of a purine by a pyrimidine, or vice versa. A SNP mayalso be a single base insertion or deletion variant referred to as an“indel.” Weber et al., “Human diallelic insertion/deletionpolymorphisms,” Am J Hum Genet. 71(4):854-62 (October 2002).

A synonymous codon change, or silent mutation/SNP (terms such as “SNP,”“polymorphism,” “mutation,” “mutant,” “variation,” and “variant” areused herein interchangeably), is one that does not result in a change ofamino acid due to the degeneracy of the genetic code. A substitutionthat changes a codon coding for one amino acid to a codon coding for adifferent amino acid (i.e., a non-synonymous codon change) is referredto as a missense mutation. A nonsense mutation results in a type ofnon-synonymous codon change in which a stop codon is formed, therebyleading to premature termination of a polypeptide chain and a truncatedprotein. A read-through mutation is another type of non-synonymous codonchange that causes the destruction of a stop codon, thereby resulting inan extended polypeptide product. While SNPs can be bi-, tri-, ortetra-allelic, the vast majority of SNPs are bi-allelic, and are thusoften referred to as “bi-allelic markers,” or “di-allelic markers.” Asused herein, references to SNPs and SNP genotypes include individualSNPs and/or haplotypes, which are groups of SNPs that are generallyinherited together. Haplotypes can have stronger correlations withdiseases or other phenotypic effects compared with individual SNPs, andtherefore may provide increased diagnostic accuracy in some cases.Stephens et al., Science 293:489-493 (July 2001).

Causative SNPs are those SNPs that produce alterations in geneexpression or in the expression, structure, and/or function of a geneproduct, and therefore are most predictive of a possible clinicalphenotype. One such class includes SNPs falling within regions of genesencoding a polypeptide product, i.e. cSNPs. These SNPs may result in analteration of the amino acid sequence of the polypeptide product (i.e.,non-synonymous codon changes) and give rise to the expression of adefective or other variant protein. Furthermore, in the case of nonsensemutations, a SNP may lead to premature termination of a polypeptideproduct. Such variant products can result in a pathological condition,e.g., genetic disease. Examples of genes in which a SNP within a codingsequence causes a genetic disease include sickle cell anemia and cysticfibrosis.

Causative SNPs do not necessarily have to occur in coding regions;causative SNPs can occur in, for example, any genetic region that canultimately affect the expression, structure, and/or activity of theprotein encoded by a nucleic acid. Such genetic regions include, forexample, those involved in transcription, such as SNPs in transcriptionfactor binding domains, SNPs in promoter regions, in areas involved intranscript processing, such as SNPs at intron-exon boundaries that maycause defective splicing, or SNPs in mRNA processing signal sequencessuch as polyadenylation signal regions. Some SNPs that are not causativeSNPs nevertheless are in close association with, and therefore segregatewith, a disease-causing sequence. In this situation, the presence of aSNP correlates with the presence of, or predisposition to, or anincreased risk in developing the disease. These SNPs, although notcausative, are nonetheless also useful for diagnostics, diseasepredisposition screening, and other uses.

An association study of a SNP and a specific disorder involvesdetermining the presence or frequency of the SNP allele in biologicalsamples from individuals with the disorder of interest, such asautoimmune disease, and comparing the information to that of controls(i.e., individuals who do not have the disorder; controls may be alsoreferred to as “healthy” or “normal” individuals) who are preferably ofsimilar age and race. The appropriate selection of patients and controlsis important to the success of SNP association studies. Therefore, apool of individuals with well-characterized phenotypes is extremelydesirable.

A SNP may be screened in diseased tissue samples or any biologicalsample obtained from a diseased individual, and compared to controlsamples, and selected for its increased (or decreased) occurrence in aspecific pathological condition, such as pathologies related toautoimmune disease and in particular, RA. Once a statisticallysignificant association is established between one or more SNP(s) and apathological condition (or other phenotype) of interest, then the regionaround the SNP can optionally be thoroughly screened to identify thecausative genetic locus/sequence(s) (e.g., causative SNP/mutation, gene,regulatory region, etc.) that influences the pathological condition orphenotype. Association studies may be conducted within the generalpopulation and are not limited to studies performed on relatedindividuals in affected families (linkage studies).

Clinical trials have shown that patient response to treatment withpharmaceuticals is often heterogeneous. There is a continuing need toimprove pharmaceutical agent design and therapy. In that regard, SNPscan be used to identify patients most suited to therapy with particularpharmaceutical agents (this is often termed “pharmacogenomics”).Similarly, SNPs can be used to exclude patients from certain treatmentdue to the patient's increased likelihood of developing toxic sideeffects or their likelihood of not responding to the treatment.Pharmacogenomics can also be used in pharmaceutical research to assistthe drug development and selection process. Linder et al., ClinicalChemistry 43:254 (1997); Marshall, Nature Biotechnology 15:1249 (1997);International Patent Application WO 97/40462, Spectra Biomedical; andSchafer et al., Nature Biotechnology 16:3 (1998).

SUMMARY OF THE INVENTION

The present invention relates to the identification of SNPs, as well asunique combinations of such SNPs and haplotypes of SNPs, that areassociated with autoimmune disease, particularly rheumatoid arthritis(RA). The polymorphisms disclosed herein are directly useful as targetsfor the design of diagnostic and prognostic reagents and the developmentof therapeutic and preventive agents for use in the diagnosis,prognosis, treatment, and/or prevention of autoimmune disease(particularly RA), as well as for predicting a patient's response totherapeutic agents such as tumor necrosis factor (TNF) inhibitors,particularly for the treatment or prevention of autoimmune disease.

Based on the identification of SNPs associated with autoimmune disease(particularly RA), the present invention also provides methods ofdetecting these variants as well as the design and preparation ofdetection reagents needed to accomplish this task. The inventionspecifically provides, for example, SNPs associated with autoimmunedisease (particularly RA), isolated nucleic acid molecules (includingDNA and RNA molecules) containing these SNPs, variant proteins encodedby nucleic acid molecules containing such SNPs, antibodies to theencoded variant proteins, computer-based and data storage systemscontaining the novel SNP information, methods of detecting these SNPs ina test sample, methods of identifying individuals who have an altered(i.e., increased or decreased) risk of developing autoimmune disease(particularly RA), methods for determining the risk of an individual forrecurring autoimmune disease (e.g., recurrent RA), methods forprognosing the severity or consequences of autoimmune disease, methodsof treating an individual who has an increased risk for autoimmunedisease, and methods for identifying individuals (e.g., determining aparticular individual's likelihood) who have an altered (i.e., increasedor decreased) likelihood of responding to drug treatment, particularlydrug treatment of autoimmune disease (e.g., treatment or prevention ofRA), based on the presence or absence of one or more particularnucleotides (alleles) at one or more SNP sites disclosed herein or thedetection of one or more encoded variant products (e.g., variant mRNAtranscripts or variant proteins), methods of identifying individuals whoare more or less likely to respond to a treatment (or more or lesslikely to experience undesirable side effects from a treatment), methodsof screening for compounds useful in the treatment or prevention of adisorder associated with a variant gene/protein, compounds identified bythese methods, methods of treating or preventing disorders mediated by avariant gene/protein, methods of using the novel SNPs of the presentinvention for human identification, etc.

The present invention further provides methods for selecting orformulating a treatment regimen (e.g., methods for determining whetheror not to administer TNF inhibitor treatment to an individual havingautoimmune disease, or who is at risk for developing autoimmune diseasein the future, or who has previously had autoimmune disease, methods forselecting a particular TNF inhibitor-based treatment regimen such asdosage and frequency of administration of TNF inhibitor, or a particularform/type of TNF inhibitor such as a particular antibody, fusionprotein, small molecule compound, nucleic acid agent, pharmaceuticalformulation, etc., methods for administering an alternative, non-TNFinhibitor treatment to individuals who are predicted to be unlikely torespond positively to TNF inhibitor treatment, etc.), and methods fordetermining the likelihood of experiencing toxicity or other undesirableside effects from TNF inhibitor treatment, etc. The present inventionalso provides methods for selecting individuals to whom a TNF inhibitoror other therapeutic will be administered based on the individual'sgenotype, and methods for selecting individuals for a clinical trial ofa TNF inhibitor or other therapeutic agent based on the genotypes of theindividuals (e.g., selecting individuals to participate in the trial whoare most likely to respond positively from the TNF inhibitor treatmentand/or excluding individuals from the trial who are unlikely to respondpositively from the TNF inhibitor treatment based on their SNPgenotype(s), or selecting individuals who are unlikely to respondpositively to TNF inhibitors based on their SNP genotype(s) toparticipate in a clinical trial of another type of drug that may benefitthem). The present invention further provides methods for reducing anindividual's risk of developing autoimmune disease (such as RA) usingTNF inhibitor treatment, including preventing recurring autoimmunedisease (e.g., recurrent RA) using TNF inhibitor treatment, when saidindividual carries one or more SNPs identified herein as beingassociated with autoimmune disease.

In Tables 1 and 2, the present invention provides gene information,references to the identification of transcript sequences (SEQ IDNOS:1-16), encoded amino acid sequences (SEQ ID NOS:17-32), genomicsequences (SEQ ID NOS:78-91), transcript-based context sequences (SEQ IDNOS:33-77) and genomic-based context sequences (SEQ ID NOS:92-584) thatcontain the SNPs of the present invention, and extensive SNP informationthat includes observed alleles, allele frequencies, populations/ethnicgroups in which alleles have been observed, information about the typeof SNP and corresponding functional effect, and, for cSNPs, informationabout the encoded polypeptide product. The actual transcript sequences(SEQ ID NOS:1-16), amino acid sequences (SEQ ID NOS:17-32), genomicsequences (SEQ ID NOS:78-91), transcript-based SNP context sequences(SEQ ID NOS:33-77), and genomic-based SNP context sequences (SEQ IDNOS:92-584), together with primer sequences (SEQ ID NOS:585-1004) areprovided in the Sequence Listing.

In certain exemplary embodiments, the invention provides methods foridentifying an individual who has an altered risk for developingautoimmune disease such as RA (including, for example, a first incidenceand/or a recurrence of the disease), in which the method comprisesdetecting a single nucleotide polymorphism (SNP) in any one of thenucleotide sequences of SEQ ID NOS:1-16, SEQ ID NOS:33-77, SEQ IDNOS:78-91, and SEQ ID NOS:92-584 in said individual's nucleic acids,wherein the SNP is specified in Table 1 and/or Table 2, and the presenceof the SNP is indicative of an altered risk for autoimmune disease insaid individual. In certain embodiments, the autoimmune disease is RA.In certain exemplary embodiments of the invention, SNPs that occurnaturally in the human genome are provided as isolated nucleic acidmolecules. These SNPs are associated with autoimmune disease, particularRA, such that they can have a variety of uses in the diagnosis,prognosis, treatment, and/or prevention of autoimmune disease andrelated pathologies, and in the treatment or prevention of autoimmunedisease, particularly by using TNF inhibitors. In an alternativeembodiment, a nucleic acid of the invention is an amplifiedpolynucleotide, which is produced by amplification of a SNP-containingnucleic acid template. In another embodiment, the invention provides fora variant protein that is encoded by a nucleic acid molecule containinga SNP disclosed herein.

In yet another embodiment of the invention, a reagent for detecting aSNP in the context of its naturally-occurring flanking nucleotidesequences (which can be, e.g., either DNA or mRNA) is provided. Inparticular, such a reagent may be in the form of, for example, ahybridization probe or an amplification primer that is useful in thespecific detection of a SNP of interest. In an alternative embodiment, aprotein detection reagent is used to detect a variant protein that isencoded by a nucleic acid molecule containing a SNP disclosed herein. Apreferred embodiment of a protein detection reagent is an antibody or anantigen-reactive antibody fragment. Various embodiments of the inventionalso provide kits comprising SNP detection reagents, and methods fordetecting the SNPs disclosed herein by employing detection reagents.

In various embodiments, the present invention provides for a method ofidentifying an individual having an increased or decreased risk ofdeveloping autoimmune disease (e.g., RA) by detecting the presence orabsence of one or more SNP alleles (or haplotypes or diplotypes)disclosed herein. In other embodiments, a method for diagnosis orprognosis of autoimmune disease (e.g., RA) by detecting the presence orabsence of one or more SNP alleles (or haplotypes or diplotypes)disclosed herein is provided. The present invention also providesmethods for evaluating whether an individual is likely (or unlikely) torespond to TNF inhibitor treatment, particularly TNF inhibitor treatmentof autoimmune disease, by detecting the presence or absence of one ormore SNP alleles (or haplotypes or diplotypes) disclosed herein.

In certain exemplary embodiments, the invention provides methods andcompositions based on any of the following SNPs, individually or in anycombination: rs1953126, rs10985196, rs6478486, rs4836834, rs2239657,rs7021880, rs7021049, rs10760117, rs7046030, rs12683459, rs1323472,rs942152, rs2900180, rs7026635, rs10818527, rs1609810, rs881375, and theother SNPs disclosed herein (such as the SNPs provided in any of Tables1-7 and 9-16), as well as combinations thereof. For example, in certainexemplary embodiments, the invention provides methods for determining anindividual's risk for developing autoimmune disease (particularly RA),methods for diagnosing or prognosing autoimmune disease (particularlyRA), methods for predicting an individual's response to a TNF inhibitoror other drug, as well as other methods of use, by detecting whichallele (e.g., nucleotide) is present at any or all of these SNPs, aswell as reagents and other compositions for carrying out these methods.

In certain exemplary embodiments, the invention provides methods andcompositions based on combinations consisting of, consisting essentiallyof, or comprising the SNPs rs2239657, rs7021880, and rs7021049, andsubcombinations thereof. For example, in certain exemplary embodiments,the invention provides methods for determining an individual's risk fordeveloping autoimmune disease, particularly RA, by detecting whichallele (e.g., nucleotide) is present at any or all of SNPs rs2239657,rs7021880, and rs7021049, as well as reagents and other compositions forcarrying out these methods. Similarly, the invention also providesmethods such as diagnosing or prognosing autoimmune disease,particularly RA, as well as methods for predicting an individual'sresponse to a drug, particularly a TNF inhibitor, by detecting whichallele (e.g., nucleotide) is present at any or all of SNPs rs2239657,rs7021880, and rs7021049, as well as reagents and other compositions forcarrying out these and other methods.

In certain further embodiments, the invention provides haplotypesconsisting of, consisting essentially of, or comprising the followingcombinations of alleles at SNPs rs2239657, rs7021880, and rs7021049:rs2239657(A)-rs7021880(G)-rs7021049(T) as a protective haplotype,rs2239657(G)-rs7021880(C)-rs7021049(G) as a risk (predisposition)haplotype, as well as rs2239657(A)-rs7021880(G)-rs7021049(G) andrs2239657(G)-rs7021880(G)-rs7021049(G) (see, e.g., Table 10). In certainfurther embodiments, the invention provides diplotypes consisting of,consisting essentially of, or comprising the following combinations ofalleles at SNPs rs2239657, rs7021880, and rs7021049:rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs7021049(T)as a protective diplotype,rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs7021049(G)as a risk (predisposition) diplotype, as well asrs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(G)-rs7021880(C)-rs7021049(G),particularly as a risk (predisposition) diplotype (see, e.g., Table 11).

Examples of other combinations of SNPs (such as haplotypes ordiplotypes) of the invention include those consisting of, consistingessentially of, or comprising the following combinations of SNPs, aswell as subcombinations of any of these SNPs:rs6478486-rs4836834-rs2239657-rs7021880-rs7021049 andrs2239657-rs7021880-rs7021049-rs2900180-rs2269066, as well as otherhaplotypes and diplotypes between and/or including rs10985070 andrs2900180.

In certain exemplary embodiments, the invention provides methods andcompositions based on the any of the SNPs disclosed herein, particularlythe TRAF1 SNPs disclosed herein (and combinations thereof such ashaplotypes and diplotypes), and especially SNPs rs2239657, rs7021880,and rs7021049 (as well as subcombination thereof), in combination withPTPN22 and/or HLA-DRB1 polymorphisms, such as shown in FIG. 1 and Table15. For example, the TRAF1 risk diplotypers2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs7021049(G)and/or the TRAF1 protective diplotypers2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs7021049(T)can be detected in combination with PTPN22 and/or HLA-DRB1polymorphisms, particularly the R620W PTPN22 polymorphism (e.g., inwhich a CC genotype indicates homozygosity for the protective R620allele, and TT and TC genotypes indicate carriage of the risk W620allele) and/or the number of copies of the HLA-DRB1 shared epitope(e.g., OSE, 1SE, or 2SE), such as to determine an individual's risk fordeveloping autoimmune disease, particularly RA. For example, individualswith the protective genotype at all three loci (OSE for HLA-DRB1, CCgenotype (R620 allele) for PTPN22 and thers2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs7021049(T)TRAF1 diplotype) have a substantially reduced predicted risk of RAcompared with individuals with the risk genotype at all three loci (2SEfor HLA-DRB1, TT or TC genotype (W620 allele) at PTPN22, and thers2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs7021049(G)TRAF1 diplotype). Between these lowest and highest risk categories, riskfor RA increases or decreases commensurately according to an invidual'sparticular combination of risk or protective genotypes at each of theTRAF1 locus (e.g., in which thers2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs7021049(T)diplotype indicates lower risk and thers2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs7021049(G)diplotype indicates higher risk), the PTPN22 locus (e.g., in which a CCgenotype/R620 allele indicates lower risk for RA, and at least one Tnucleotide (TT or TC genotype)/W620 allele indicates higher risk forRA), and/or the HLA-DRB1 locus (e.g., in which OSE indicates lowestrisk, 1SE indicates intermediate risk, and 2SE indicates highest risk)(see FIG. 1 and Table 15 as an example).

The nucleic acid molecules of the invention can be inserted in anexpression vector, such as to produce a variant protein in a host cell.Thus, the present invention also provides for a vector comprising aSNP-containing nucleic acid molecule, genetically-engineered host cellscontaining the vector, and methods for expressing a recombinant variantprotein using such host cells. In another specific embodiment, the hostcells, SNP-containing nucleic acid molecules, and/or variant proteinscan be used as targets in a method for screening and identifyingtherapeutic agents or pharmaceutical compounds useful in the treatmentor prevention of autoimmune disease (particularly RA).

An aspect of this invention is a method for treating or preventingautoimmune disease such as RA (including, for example, a firstoccurrence and/or a recurrence of the disease), in a human subjectwherein said human subject harbors a SNP, gene, transcript, and/orencoded protein identified in Tables 1 and 2, which method comprisesadministering to said human subject a therapeutically orprophylactically effective amount of one or more agents counteractingthe effects of the disease, such as by inhibiting (or stimulating) theactivity of a gene, transcript, and/or encoded protein identified inTables 1 and 2.

Another aspect of this invention is a method for identifying an agentuseful in therapeutically or prophylactically treating autoimmunedisease (particularly RA), in a human subject wherein said human subjectharbors a SNP, gene, transcript, and/or encoded protein identified inTables 1 and 2, which method comprises contacting the gene, transcript,or encoded protein with a candidate agent under conditions suitable toallow formation of a binding complex between the gene, transcript, orencoded protein and the candidate agent and detecting the formation ofthe binding complex, wherein the presence of the complex identifies saidagent.

Another aspect of this invention is a method for treating or preventingautoimmune disease (such as RA), in a human subject, in which the methodcomprises:

(i) determining that said human subject harbors a SNP, gene, transcript,and/or encoded protein identified in Tables 1 and 2, and

(ii) administering to said subject a therapeutically or prophylacticallyeffective amount of one or more agents counteracting the effects of thedisease, such as TNF inhibitors.

Another aspect of the invention is a method for identifying a human whois likely to benefit from TNF inhibitor treatment, in which the methodcomprises detecting an allele of one or more SNPs disclosed herein insaid human's nucleic acids, wherein the presence of the allele indicatesthat said human is likely to benefit from TNF inhibitor treatment.

Another aspect of the invention is a method for identifying a human whois likely to benefit from TNF inhibitor treatment, in which the methodcomprises detecting an allele of one or more SNPs that are in LD withone or more SNPs disclosed herein in said human's nucleic acids, whereinthe presence of the allele of the LD SNP indicates that said human islikely to benefit from TNF inhibitor treatment.

Many other uses and advantages of the present invention will be apparentto those skilled in the art upon review of the detailed description ofthe preferred embodiments herein. Solely for clarity of discussion, theinvention is described in the sections below by way of non-limitingexamples.

Description of the Files Contained on the Cd-Rs

Each of the three CD-R5 contains an identical copy of each the followingthree text files:

1) File CD0000190RD_SEQLIST.txt provides the Sequence Listing. TheSequence Listing provides the transcript sequences (SEQ ID NOS:1-16) andprotein sequences (SEQ ID NOS:17-32) as referred to in Table 1, andgenomic sequences (SEQ ID NOS:78-91) as referred to in Table 2, for eachautoimmune disease-associated gene (or genomic region for intergenicSNPs) that contains one or more SNPs of the present invention. Alsoprovided in the Sequence Listing are context sequences flanking eachSNP, including both transcript-based context sequences as referred to inTable 1 (SEQ ID NOS:33-77) and genomic-based context sequences asreferred to in Table 2 (SEQ ID NOS:92-584). In addition, the SequenceListing provides the primer sequences from Table 3 (SEQ IDNOS:585-1004), which are oligonucleotides that have been synthesized andused in the laboratory to assay certain SNPs disclosed herein byallele-specific PCR during the course of association studies to verifythe association of these SNPs with autoimmune disease. The contextsequences generally provide 100 bp upstream (5′) and 100 bp downstream(3′) of each SNP, with the SNP in the middle of the context sequence,for a total of 200 bp of context sequence surrounding each SNP.

File CD0000190RD_SEQLIST.txt is 1,595 KB in size, and was created onAug. 29, 2008. In accordance with 37 C.F.R. §1.821(f), the informationrecorded on each of the CDRs submitted herewith is identical.

2) File CD0000190RD_TABLE1.txt provides Table 1. FileCD0000190RD_TABLE1.txt is 51 KB in size, and was created on Aug. 28,2008.

3) File CD0000190RD_TABLE2.txt provides Table 2. FileCD0000190RD_TABLE2.txt is 390 KB in size, and was created on Aug. 29,2008.

The material contained on the CD-R is hereby incorporated by referencepursuant to 37 CFR 1.77(b)(4).

TABLES The patent application contains table(s) that have been includedat the end of the specification.

Description of Table 1 and Table 2

Table 1 and Table 2 (both provided on the CD-R) disclose the SNP andassociated gene/transcript/protein information of the present invention.For each gene, Table 1 provides a header containing gene, transcript andprotein information, followed by a transcript and protein sequenceidentifier (SEQ ID NO), and then SNP information regarding each SNPfound in that gene/transcript including the transcript context sequence.For each gene in Table 2, a header is provided that contains gene andgenomic information, followed by a genomic sequence identifier (SEQ IDNO) and then SNP information regarding each SNP found in that gene,including the genomic context sequence.

Note that SNP markers may be included in both Table 1 and Table 2; Table1 presents the SNPs relative to their transcript sequences and encodedprotein sequences, whereas Table 2 presents the SNPs relative to theirgenomic sequences. In some instances Table 2 may also include, after thelast gene sequence, genomic sequences of one or more intergenic regions,as well as SNP context sequences and other SNP information for any SNPsthat lie within these intergenic regions. Additionally, in either Table1 or 2 a “Related Interrogated SNP” may be listed following a SNP whichis determined to be in LD with that interrogated SNP according to thegiven Power value. SNPs can be readily cross-referenced between allTables based on their Celera hCV (or, in some instances, hDV)identification numbers and/or public rs identification numbers, and tothe Sequence Listing based on their corresponding SEQ ID NOs.

The gene/transcript/protein information includes:

-   -   a gene number (1 through n, where n=the total number of genes in        the Table),    -   a gene symbol, along with an Entrez gene identification number        (Entrez Gene database, National Center for Biotechnology        Information (NCBI), National Library of Medicine, National        Institutes of Health)    -   a gene name,    -   an accession number for the transcript (e.g., RefSeq NM number,        or a Celera hCT identification number if no RefSeq NM number is        available) (Table 1 only),    -   an accession number for the protein (e.g., RefSeq NP number, or        a Celera hCP identification number if no RefSeq NP number is        available) (Table 1 only),    -   the chromosome number of the chromosome on which the gene is        located,    -   an OMIM (“Online Mendelian Inheritance in Man” database, Johns        Hopkins University/NCBI) public reference number for the gene,        and OMIM information such as alternative gene/protein name(s)        and/or symbol(s) in the OMIM entry.

Note that, due to the presence of alternative splice forms, multipletranscript/protein entries may be provided for a single gene entry inTable 1; i.e., for a single Gene Number, multiple entries may beprovided in series that differ in their transcript/protein informationand sequences.

Following the gene/transcript/protein information is a transcriptcontext sequence (Table 1), or a genomic context sequence (Table 2), foreach SNP within that gene.

After the last gene sequence, Table 2 may include additional genomicsequences of intergenic regions (in such instances, these sequences areidentified as “Intergenic region:” followed by a numericalidentification number), as well as SNP context sequences and other SNPinformation for any SNPs that lie within each intergenic region (suchSNPs are identified as “INTERGENIC” for SNP type).

Note that the transcript, protein, and transcript-based SNP contextsequences are all provided in the Sequence Listing. The transcript-basedSNP context sequences are provided in both Table 1 and also in theSequence Listing. The genomic and genomic-based SNP context sequencesare provided in the Sequence Listing. The genomic-based SNP contextsequences are provided in both Table 2 and in the Sequence Listing. SEQID NOs are indicated in Table 1 for the transcript-based contextsequences (SEQ ID NOS:33-77); SEQ ID NOs are indicated in Table 2 forthe genomic-based context sequences (SEQ ID NOS:92-584).

The SNP information includes:

-   -   Context sequence (taken from the transcript sequence in Table 1,        the genomic sequence in Table 2) with the SNP represented by its        IUB code, including 100 bp upstream (5′) of the SNP position        plus 100 bp downstream (3′) of the SNP position (the        transcript-based SNP context sequences in Table 1 are provided        in the Sequence Listing as SEQ ID NOS:33-77; the genomic-based        SNP context sequences in Table 2 are provided in the Sequence        Listing as SEQ ID NOS:92-584).    -   Celera hCV internal identification number for the SNP (in some        instances, an “hDV” number is given instead of an “hCV” number).    -   The corresponding public identification number for the SNP, the        rs number.    -   “SNP Chromosome Position” indicates the nucleotide position of        the SNP along the entire sequence of the chromosome as provided        in NCBI Genome Build 36.    -   SNP position (nucleotide position of the SNP within the given        transcript sequence (Table 1) or within the given genomic        sequence (Table 2)).    -   “Related Interrogated SNP” is the interrogated SNP with which        the listed SNP is in LD at the given value of Power.    -   SNP source (may include any combination of one or more of the        following five codes, depending on which internal sequencing        projects and/or public databases the SNP has been observed in:        “Applera”=SNP observed during the re-sequencing of genes and        regulatory regions of 39 individuals, “Celera”=SNP observed        during shotgun sequencing and assembly of the Celera human        genome sequence, “Celera Diagnostics”=SNP observed during        re-sequencing of nucleic acid samples from individuals who have        a disease, “dbSNP”=SNP observed in the dbSNP public database,        “HGBASE”=SNP observed in the HGBASE public database, “HGMD”=SNP        observed in the Human Gene Mutation Database (HGMD) public        database, “HapMap”=SNP observed in the International HapMap        Project public database, “CSNP”=SNP observed in an internal        Applied Biosystems (Foster City, Calif.) database of coding SNPS        (cSNPs).

Note that multiple “Applera” source entries for a single SNP indicatethat the same SNP was covered by multiple overlapping amplificationproducts and the re-sequencing results (e.g., observed allele counts)from each of these amplification products is being provided.

-   -   Population/allele/allele count information in the format of        [population1(first_allele,count|second_allele,count)population2(first_allele,count|second_allele,count)        total (first_allele,total count|second_allele,total count)]. The        information in this field includes populations/ethnic groups in        which particular SNP alleles have been observed        (“cau”=Caucasian, “his”=Hispanic, “chn”=Chinese, and        “afr”=African-American, “jpn”=Japanese, “ind”=Indian,        “mex”=Mexican, “ain”=“American Indian, “cra”=Celera donor,        “no_pop”=no population information available), identified SNP        alleles, and observed allele counts (within each population        group and total allele counts), where available [“-” in the        allele field represents a deletion allele of an        insertion/deletion (“indel”) polymorphism (in which case the        corresponding insertion allele, which may be comprised of one or        more nucleotides, is indicated in the allele field on the        opposite side of the “|”); “-” in the count field indicates that        allele count information is not available]. For certain SNPs        from the public dbSNP database, population/ethnic information is        indicated as follows (this population information is publicly        available in dbSNP): “HISP1”=human individual DNA (anonymized        samples) from 23 individuals of self-described HISPANIC        heritage; “PAC1”=human individual DNA (anonymized samples) from        24 individuals of self-described PACIFIC RIM heritage;        “CAUC1”=human individual DNA (anonymized samples) from 31        individuals of self-described CAUCASIAN heritage; “AFR1”=human        individual DNA (anonymized samples) from 24 individuals of        self-described AFRICAN/AFRICAN AMERICAN heritage; “P1”=human        individual DNA (anonymized samples) from 102 individuals of        self-described heritage; “PA130299515”; “SC_(—)12_A”=SANGER 12        DNAs of Asian origin from Corielle cell repositories, 6 of which        are male and 6 female; “SC_(—)12_C”=SANGER 12 DNAs of Caucasian        origin from Corielle cell repositories from the CEPH/UTAH        library, six male and six female; “SC_(—)12_AA”=SANGER 12 DNAs        of African-American origin from Corielle cell repositories 6 of        which are male and 6 female; “SC_(—)95_C”=SANGER 95 DNAs of        Caucasian origin from Corielle cell repositories from the        CEPH/UTAH library; and “SC_(—)12_CA”=Caucasians-12 DNAs from        Corielle cell repositories that are from the CEPH/UTAH library,        six male and six female.

Note that for SNPs of “Applera” SNP source, genes/regulatory regions of39 individuals (20 Caucasians and 19 African Americans) werere-sequenced and, since each SNP position is represented by twochromosomes in each individual (with the exception of SNPs on X and Ychromosomes in males, for which each SNP position is represented by asingle chromosome), up to 78 chromosomes were genotyped for each SNPposition. Thus, the sum of the African-American (“afr”) allele counts isup to 38, the sum of the Caucasian allele counts (“cau”) is up to 40,and the total sum of all allele counts is up to 78.

Note that semicolons separate population/allele/count informationcorresponding to each indicated SNP source; i.e., if four SNP sourcesare indicated, such as “Celera,” “dbSNP,” “HGBASE,” and “HGMD,” thenpopulation/allele/count information is provided in four groups which areseparated by semicolons and listed in the same order as the listing ofSNP sources, with each population/allele/count information groupcorresponding to the respective SNP source based on order; thus, in thisexample, the first population/allele/count information group wouldcorrespond to the first listed SNP source (Celera) and the thirdpopulation/allele/count information group separated by semicolons wouldcorrespond to the third listed SNP source (HGBASE); ifpopulation/allele/count information is not available for any particularSNP source, then a pair of semicolons is still inserted as aplace-holder in order to maintain correspondence between the list of SNPsources and the corresponding listing of population/allele/countinformation.

-   -   SNP type (e.g., location within gene/transcript and/or predicted        functional effect) [“MIS-SENSE MUTATION”=SNP causes a change in        the encoded amino acid (i.e., a non-synonymous coding SNP);        “SILENT MUTATION”=SNP does not cause a change in the encoded        amino acid (i.e., a synonymous coding SNP); “STOP CODON        MUTATION”=SNP is located in a stop codon; “NONSENSE        MUTATION”=SNP creates or destroys a stop codon; “UTR 5”=SNP is        located in a 5′ UTR of a transcript; “UTR 3”=SNP is located in a        3′ UTR of a transcript; “PUTATIVE UTR 5”=SNP is located in a        putative 5′ UTR; “PUTATIVE UTR 3”=SNP is located in a putative        3′ UTR; “DONOR SPLICE SITE”=SNP is located in a donor splice        site (5′ intron boundary); “ACCEPTOR SPLICE SITE”=SNP is located        in an acceptor splice site (3′ intron boundary); “CODING        REGION”=SNP is located in a protein-coding region of the        transcript; “EXON”=SNP is located in an exon; “INTRON”=SNP is        located in an intron; “hmCS”=SNP is located in a human-mouse        conserved segment; “TFBS”=SNP is located in a transcription        factor binding site; “UNKNOWN”=SNP type is not defined;        “INTERGENIC”=SNP is intergenic, i.e., outside of any gene        boundary].    -   Protein coding information (Table 1 only), where relevant, in        the format of [protein SEQ ID NO, amino acid position, (amino        acid-1, codon1) (amino acid-2, codon2)]. The information in this        field includes SEQ ID NO of the encoded protein sequence,        position of the amino acid residue within the protein identified        by the SEQ ID NO that is encoded by the codon containing the        SNP, amino acids (represented by one-letter amino acid codes)        that are encoded by the alternative SNP alleles (in the case of        stop codons, “X” is used for the one-letter amino acid code),        and alternative codons containing the alternative SNP        nucleotides which encode the amino acid residues (thus, for        example, for missense mutation-type SNPs, at least two different        amino acids and at least two different codons are generally        indicated; for silent mutation-type SNPs, one amino acid and at        least two different codons are generally indicated, etc.). In        instances where the SNP is located outside of a protein-coding        region (e.g., in a UTR region), “None” is indicated following        the protein SEQ ID NO.

Description of Table 3

Table 3 provides sequences (SEQ ID NOS:585-1004) of primers that may beused to assay the SNPs disclosed herein by allele-specific PCR or othermethods, such as for uses related to autoimmune disease, particularly RA(see Examples section).

Table 3 provides the following:

-   -   the column labeled “Marker” provides an hCV identification        number for each SNP that can be detected using the corresponding        primers.    -   the column labeled “Alleles” designates the two alternative        alleles (i.e., nucleotides) at the SNP site. These alleles are        targeted by the allele-specific primers (the allele-specific        primers are shown as Primer 1 and Primer 2). Note that alleles        may be presented in Table 3 based on a different orientation        (i.e., the reverse complement) relative to how the same alleles        are presented in Tables 1-2.    -   the column labeled “Primer 1 (Allele-Specific Primer)” provides        an allele-specific primer that is specific for an allele        designated in the “Alleles” column.    -   the column labeled “Primer 2 (Allele-Specific Primer)” provides        an allele-specific primer that is specific for the other allele        designated in the “Alleles” column.    -   the column labeled “Common Primer” provides a common primer that        is used in conjunction with each of the allele-specific primers        (i.e., Primer 1 and Primer 2) and which hybridizes at a site        away from the SNP position.

All primer sequences are given in the 5′ to 3′ direction.

Each of the nucleotides designated in the “Alleles” column matches or isthe reverse complement of (depending on the orientation of the primerrelative to the designated allele) the 3′ nucleotide of theallele-specific primer (i.e., either Primer 1 or Primer 2) that isspecific for that allele.

Description of Table 4

Table 4 provides a list of LD SNPs that are related to and derived fromcertain interrogated SNPs. The interrogated SNPs, which are shown incolumn 1 (which indicates the hCV identification numbers of eachinterrogated SNP) and column 2 (which indicates the public rsidentification numbers of each interrogated SNP) of Table 4, arestatistically significantly associated with autoimmune disease,especially RA, as described and shown herein, particularly in Tables5-16 and in the Examples section below. The LD SNPs are provided as anexample of SNPs which can also serve as markers for disease associationbased on their being in LD with an interrogated SNP. The criteria andprocess of selecting such LD SNPs, including the calculation of the r²value and the threshold r² value, are described in Example 2, below.

In Table 4, the column labeled “Interrogated SNP” presents each markeras identified by its unique hCV identification number. The columnlabeled “Interrogated rs” presents the publicly known rs identificationnumber for the corresponding hCV number. The column labeled “LD SNP”presents the hCV numbers of the LD SNPs that are derived from theircorresponding interrogated SNPs. The column labeled “LD SNP rs” presentsthe publicly known rs identification number for the corresponding hCVnumber. The column labeled “Power” presents the level of power where ther² threshold is set. For example, when power is set at 0.51, thethreshold r² value calculated therefrom is the minimum r² that an LD SNPmust have in reference to an interrogated SNP, in order for the LD SNPto be classified as a marker capable of being associated with a diseasephenotype at greater than 51% probability. The column labeled “Thresholdr²” presents the minimum value of r² that an LD SNP must meet inreference to an interrogated SNP in order to qualify as an LD SNP. Thecolumn labeled “r²” presents the actual r² value of the LD SNP inreference to the interrogated SNP to which it is related.

Description of Tables 5-16

Tables 5-16 provide the results of statistical analyses for SNPsdisclosed in Tables 1 and 2 (SNPs can be cross-referenced between allthe tables herein based on their hCV and/or rs identification numbers).The results shown in Tables 5-16 provide support for the association ofthese SNPs with autoimmune disease, particularly RA.

Tables 5, 6, and 7 provide minor allele frequencies and allele-basedassociation of chromosome 9q33 SNPs with RA for Sample Set 1 (Table 5),Sample Set 2 (Table 6), and Sample Set 3 (Table 7).

Table 8 provides demographic and clinical information for Sample Sets 1,2, and 3.

Table 9 provides results of combined analysis of 43 chromosome 9q33.2SNPs genotyped in all three RA sample sets.

Table 10 provides three-SNP haplotypes for LD Block 1.

Table 11 provides diplotype analysis for the TRAF1-region SNPsrs2239657, rs7021880, and rs7021049.

Table 12 provides genotype counts for rs2239657, rs7021880, andrs7021049, stratified by the presence of rheumatoid factor.

Table 13 provides results of pairwise logistic regression analysis for27 chromosome 9q33.2 SNPs.

Table 14 provides global P-values for backwards and forwards modelsusing logistic regression.

Table 15 provides RA risk estimates for three loci-HLA-SE, PTPN22, andTRAF1-assuming a disease prevalence of 1%, 10% and 30%.

Table 16 provides HapMap SNPs in high linkage disequilibrium (r²>0.85)with rs7021049 and rs2239657.

Throughout Tables 5-16, “OR” refers to the odds ratio, “95% CI” refersto the 95% confidence interval for the odds ratio, and OR_(common) andP_(comb) refer to the odds ratio and p-value, respectively, from acombined analysis. Odds ratios (OR) that are greater than one indicatethat a given allele (or combination of alleles such as a haplotype ordiplotype) is a risk allele (which may also be referred to as asusceptibility allele), whereas odds ratios or hazard ratios that areless than one indicate that a given allele is a non-risk allele (whichmay also be referred to as a protective allele). For a given riskallele, the other alternative allele at the SNP position (which can bederived from the information provided in Tables 1-2, for example) may beconsidered a non-risk allele. For a given non-risk allele, the otheralternative allele at the SNP position may be considered a risk allele.

Thus, with respect to disease risk (e.g., autoimmune disease such asRA), if the odds ratio for a particular allele at a SNP position isgreater than one, this indicates that an individual with this particularallele has a higher risk for the disease than an individual who has theother allele at the SNP position. In contrast, if the odds ratio for aparticular allele is less than one, this indicates that an individualwith this particular allele has a reduced risk for the disease comparedwith an individual who has the other allele at the SNP position.

DESCRIPTION OF THE FIGURE

FIG. 1 shows the relative risk for RA plotted as a function of thegenetic load of three validated RA risk variants in HLA-DRB1, PTPN22 andTRAF1. Individuals are classified according to the number of copies ofthe HLA-DRB1 shared epitope (0, 1 and 2) (SE-positive HLA-DRB1 allelesfound in this sample set were: 0101, 0102, 0401, 0404, 0405, 0408 and1001), carriage of the W620 PTPN22 missense SNP (TT+CT vs CC) anddiplotypes at the TRAF1 SNPs, rs2239657, rs2021880 and rs7021049. Thefrequency of each combination of markers in cases and controls isindicated atop each bar.

DETAILED DESCRIPTION OF THE INVENTION

The present invention provides SNPs associated with autoimmune disease,particularly rheumatoid arthritis (RA). The present invention furtherprovides nucleic acid molecules containing these SNPs, methods andreagents for the detection of the SNPs disclosed herein, uses of theseSNPs for the development of detection reagents, and assays or kits thatutilize such reagents. The SNPs disclosed herein are useful fordiagnosing, prognosing, screening for, and evaluating predisposition toautoimmune disease and related pathologies in humans. The SNPs disclosedherein may be used for predicting, screening for, and evaluatingresponse to tumor necrosis factor (TNF) inhibitors, particularlytreatment or prevention of autoimmune disease using TNF inhibitors, inhumans. Furthermore, such SNPs and their encoded products are usefultargets for the development of therapeutic and preventive agents.

A large number of SNPs have been identified from re-sequencing DNA from39 individuals, and they are indicated as “Applera” SNP source in Tables1-2. Their allele frequencies observed in each of the Caucasian andAfrican-American ethnic groups are provided. Additional SNPs includedherein were previously identified during “shotgun” sequencing andassembly of the human genome, and they are indicated as “Celera” SNPsource in Tables 1 and 2. Furthermore, the information provided inTables 1 and 2, particularly the allele frequency information obtainedfrom 39 individuals and the identification of the precise position ofeach SNP within each gene/transcript, allows haplotypes (i.e., groups ofSNPs that are co-inherited) to be readily inferred. The presentinvention encompasses SNP haplotypes, as well as individual SNPs.

Thus, the present invention provides individual SNPs associated withautoimmune disease (particularly RA), as well as combinations of SNPsand haplotypes, polymorphic/variant transcript sequences (SEQ IDNOS:1-16) and genomic sequences (SEQ ID NOS:78-91) containing SNPs,encoded amino acid sequences (SEQ ID NOS:17-32), and bothtranscript-based SNP context sequences (SEQ ID NOS:33-77) andgenomic-based SNP context sequences (SEQ ID NOS:92-584) (transcriptsequences, protein sequences, and transcript-based SNP context sequencesare provided in Table 1 and the Sequence Listing; genomic sequences andgenomic-based SNP context sequences are provided in Table 2 and theSequence Listing), methods of detecting these polymorphisms in a testsample, methods of determining the risk of an individual of having ordeveloping autoimmune disease, methods of determining if an individualis likely to respond to a particular treatment such as TNF inhibitors(particularly for treating or preventing autoimmune disease), methods ofscreening for compounds useful for treating disorders associated with avariant gene/protein such as autoimmune disease, compounds identified bythese screening methods, methods of using the disclosed SNPs to select atreatment/preventive strategy or therapeutic agent, methods of treatingor preventing a disorder associated with a variant gene/protein, andmethods of using the SNPs of the present invention for humanidentification.

The present invention further provides methods for selecting orformulating a treatment regimen (e.g., methods for determining whetheror not to administer a TNF inhibitor to an individual having autoimmunedisease, or who is at risk for developing autoimmune disease in thefuture, or who has previously had autoimmune disease, methods forselecting a particular TNF inhibitor-based treatment regimen such asdosage and frequency of administration of TNF inhibitor, or a particularform/type of TNF inhibitor such as a particular antibody, fusionprotein, small molecule compound, nucleic acid agent, pharmaceuticalformulation, etc., methods for administering an alternative, non-TNFinhibitor treatment to individuals who are predicted to be unlikely torespond positively to TNF inhibitor treatment, etc.), and methods fordetermining the likelihood of experiencing toxicity or other undesirableside effects from TNF inhibitor treatment, etc. The present inventionalso provides methods for selecting individuals to whom a TNF inhibitoror other therapeutic will be administered based on the individual'sgenotype, and methods for selecting individuals for a clinical trial ofa TNF inhibitor or other therapeutic agent based on the genotypes of theindividuals (e.g., selecting individuals to participate in the trial whoare most likely to respond positively from the TNF inhibitor treatmentand/or excluding individuals from the trial who are unlikely to respondpositively from the TNF inhibitor treatment based on their SNPgenotype(s), or selecting individuals who are unlikely to respondpositively to TNF inhibitors based on their SNP genotype(s) toparticipate in a clinical trial of another type of drug that may benefitthem).

The present invention may include novel SNPs associated with autoimmunedisease, particularly RA, as well as SNPs that were previously known inthe art, but were not previously known to be associated with autoimmunedisease such as RA. Accordingly, the present invention may provide novelcompositions and methods based on novel SNPs disclosed herein, and mayalso provide novel methods of using known, but previously unassociated,SNPs in methods relating to, for example, evaluating an individual'slikelihood of having or developing autoimmune disease (particularly RA),predicting the likelihood of an individual experiencing a recurrence ofautoimmune disease (e.g., experiencing recurrent RA), prognosing theseverity of autoimmune disease in an individual, or prognosing anindividual's recovery from autoimmune disease, and methods relating toevaluating an individual's likelihood of responding to TNF inhibitortreatment (particularly TNF inhibitor treatment, including preventivetreatment, of autoimmune disease). In Tables 1 and 2, known SNPs areidentified based on the public database in which they have beenobserved, which is indicated as one or more of the following SNP types:“dbSNP”═SNP observed in dbSNP, “HGBASE”═SNP observed in HGBASE, and“HGMD”═SNP observed in the Human Gene Mutation Database (HGMD).

Particular SNP alleles of the present invention can be associated witheither an increased risk of having or developing autoimmune disease(e.g., RA) or increased likelihood of responding to a treatment(particularly TNF inhibitor treatment, including preventive treatment,of autoimmune disease), or a decreased risk of having or developingautoimmune disease or decreased likelihood of responding to a treatment(such as a TNF inhibitor). Thus, whereas certain SNPs (or their encodedproducts) can be assayed to determine whether an individual possesses aSNP allele that is indicative of an increased risk of having ordeveloping autoimmune disease (e.g., RA) or increased likelihood ofresponding to TNF inhibitor treatment, other SNPs (or their encodedproducts) can be assayed to determine whether an individual possesses aSNP allele that is indicative of a decreased risk of having ordeveloping autoimmune disease or decreased likelihood of responding toTNF inhibitor treatment. Similarly, particular SNP alleles of thepresent invention can be associated with either an increased ordecreased likelihood of having a recurrence of autoimmune disease (e.g.,recurrent RA), of fully recovering from autoimmune disease, ofexperiencing toxic effects from a particular treatment or therapeuticcompound, etc. The term “altered” may be used herein to encompass eitherof these two possibilities (e.g., an increased or a decreasedrisk/likelihood). SNP alleles that are associated with a decreased riskof having or developing autoimmune disease (such as RA) may be referredto as “protective” alleles, and SNP alleles that are associated with anincreased risk of having or developing autoimmune disease may bereferred to as “susceptibility” alleles, “risk” alleles, or “riskfactors”.

Those skilled in the art will readily recognize that nucleic acidmolecules may be double-stranded molecules and that reference to aparticular site on one strand refers, as well, to the corresponding siteon a complementary strand. In defining a SNP position, SNP allele, ornucleotide sequence, reference to an adenine, a thymine (uridine), acytosine, or a guanine at a particular site on one strand of a nucleicacid molecule also defines the thymine (uridine), adenine, guanine, orcytosine (respectively) at the corresponding site on a complementarystrand of the nucleic acid molecule. Thus, reference may be made toeither strand in order to refer to a particular SNP position, SNPallele, or nucleotide sequence. Probes and primers, may be designed tohybridize to either strand and SNP genotyping methods disclosed hereinmay generally target either strand. Throughout the specification, inidentifying a SNP position, reference is generally made to theprotein-encoding strand, only for the purpose of convenience.

References to variant peptides, polypeptides, or proteins of the presentinvention include peptides, polypeptides, proteins, or fragmentsthereof, that contain at least one amino acid residue that differs fromthe corresponding amino acid sequence of the art-knownpeptide/polypeptide/protein (the art-known protein may beinterchangeably referred to as the “wild-type,” “reference,” or “normal”protein). Such variant peptides/polypeptides/proteins can result from acodon change caused by a nonsynonymous nucleotide substitution at aprotein-coding SNP position (i.e., a missense mutation) disclosed by thepresent invention. Variant peptides/polypeptides/proteins of the presentinvention can also result from a nonsense mutation (i.e., a SNP thatcreates a premature stop codon, a SNP that generates a read-throughmutation by abolishing a stop codon), or due to any SNP disclosed by thepresent invention that otherwise alters the structure, function,activity, or expression of a protein, such as a SNP in a regulatoryregion (e.g. a promoter or enhancer) or a SNP that leads to alternativeor defective splicing, such as a SNP in an intron or a SNP at anexon/intron boundary. As used herein, the terms “polypeptide,”“peptide,” and “protein” are used interchangeably.

As used herein, an “allele” may refer to a nucleotide at a SNP position(wherein at least two alternative nucleotides are present in thepopulation at the SNP position, in accordance with the inherentdefinition of a SNP) or may refer to an amino acid residue that isencoded by the codon which contains the SNP position (where thealternative nucleotides that are present in the population at the SNPposition form alternative codons that encode different amino acidresidues). An “allele” may also be referred to herein as a “variant”.Also, an amino acid residue that is encoded by a codon containing aparticular SNP may simply be referred to as being encoded by the SNP.

A phrase such as “as represented by”, “as shown by”, “as symbolized by”,or “as designated by” may be used herein to refer to a SNP within asequence (e.g., a polynucleotide context sequence surrounding a SNP),such as in the context of “a polymorphism as represented by position 101of SEQ ID NO:X or its complement”. Typically, the sequence surrounding aSNP may be recited when referring to a SNP, however the sequence is notintended as a structural limitation beyond the specific SNP positionitself. Rather, the sequence is recited merely as a way of referring tothe SNP (in this example, “SEQ ID NO:X or its complement” is recited inorder to refer to the SNP located at position 101 of SEQ ID NO:X, butSEQ ID NO:X or its complement is not intended as a structural limitationbeyond the specific SNP position itself). A SNP is a variation at asingle nucleotide position and therefore it is customary to refer tocontext sequence (e.g., SEQ ID NO:X in this example) surrounding aparticular SNP position in order to uniquely identify and refer to theSNP. Alternatively, a SNP can be referred to by a unique identificationnumber such as a public “rs” identification number or an internal “hCV”identification number, such as provided herein for each SNP (e.g., inTables 1-2). For example, in the instant application, “rs2239657”,“hCV16175379”, and “position 101 of SEQ ID NO:526” all refer to the sameSNP.

As used herein, the term “benefit” (with respect to a preventive ortherapeutic drug treatment) is defined as achieving a reduced risk for adisease that the drug is intended to treat or prevent (e.g., autoimmunedisease such as RA) by administrating the drug treatment, compared withthe risk for the disease in the absence of receiving the drug treatment(or receiving a placebo in lieu of the drug treatment) for the samegenotype. The term “benefit” may be used herein interchangeably withterms such as “respond positively” or “positively respond”.

As used herein, the terms “drug” and “therapeutic agent” are usedinterchangeably, and may include, but are not limited to, small moleculecompounds, biologics (e.g., antibodies, proteins, protein fragments,fusion proteins, glycoproteins, etc.), nucleic acid agents (e.g.,antisense, RNAi/siRNA, and microRNA molecules, etc.), vaccines, etc.,which may be used for therapeutic and/or preventive treatment of adisease (e.g., autoimmune disease such as RA).

As used herein, “related pathologies” (e.g., in the context of“autoimmune disease and related pathologies”) includes inflammatorydisorders.

The various methods described herein, such as correlating the presenceor absence of a polymorphism with an altered (e.g., increased ordecreased) risk (or no altered risk) for autoimmune disease such as RA(and/or correlating the presence or absence of a polymorphism with thepredicted response of an individual to a drug such as a TNF inhibitor),can be carried out by automated methods such as by using a computer (orother apparatus/devices such as biomedical devices, laboratoryinstrumentation, or other apparatus/devices having a computer processor)programmed to carry out any of the methods described herein. Forexample, computer software (which may be interchangeably referred toherein as a computer program) can perform the step of correlating thepresence or absence of a polymorphism in an individual with an altered(e.g., increased or decreased) risk (or no altered risk) for autoimmunedisease (particularly RA) for the individual. Computer software can alsoperform the step of correlating the presence or absence of apolymorphism in an individual with the predicted response of theindividual to a drug such as a TNF inhibitor.

Therapeutics and Pharmacogenomics in Autoimmune Disease

Exemplary embodiments of the invention provide SNPs in (or in thevicinity of) TRAF1 and other genes (e.g., PHF19 and C5) that areassociated with RA (as shown in the tables and described in the Examplessection below, for example). These SNPs have a variety of therapeuticand pharmacogenomic uses related to the treatment of RA, as well asother autoimmune (and inflammatory) disorders. The RA-associated SNPsprovided herein may be used, for example, to determine variabilitybetween different individuals in their response to RA therapy or otherautoimmune (or inflammatory) disease therapy such as to predict whetheran individual will respond positively to a particular therapy, todetermine the most effective therapeutic agent (e.g., antibody,therapeutic protein or fusion protein, small molecule compound, nucleicacid agent, etc.) to use to treat an individual, to determine whether aparticular therapeutic agent should or should not be administered to anindividual (e.g., by predicting whether the individual is likely topositively respond to the therapy or by predicting whether theindividual will experience toxic or other undesirable side effects or isunlikely to respond to the therapy), or to determine the therapeuticregimen to use for an individual such as the dosage or frequency ofdosing of a therapeutic agent for a particular individual.

TNF inhibitors are an example of therapeutic agents for the treatment ofRA or other autoimmune (or inflammatory) disorders which the SNPsprovided herein can be used in conjunction with (e.g., to predict anindividual's responsiveness). For example, TRAF1 SNP alleles disclosedherein may be associated with variability between individuals in theirresponse to TNF inhibitors. Examples of TNF inhibitors include, but arenot limited to, the monoclonal antibodies infliximab (Remicade®),adalimumab (Humira®), and golimumab (CNTO 148), and the fusion proteinetanercept (Enbrel®).

Therapeutic agents that directly modulate (e.g., inhibit or stimulate)TRAF1 (or other TRAF proteins, or any of the other RA-associated genesdisclosed herein such as PHF19 and C5) may be used to treat RA or otherautoimmune/inflammatory disorders and, furthermore, therapeutic agentsthat target proteins that interact with TRAF1 or are otherwise in TRAF1pathways may be used to indirectly modulate TRAF1 to thereby treat RA orother autoimmune/inflammatory disorders. Therapeutic agents such asthese may be used in conjunction with the SNPs provided herein.

As an example, the RA-associated SNPs provided herein may be used topredict whether an individual will respond positively to TNF inhibitortherapy and/or to determine an effective dosage of this therapy. Thisfacilitates decision making by medical practitioners, such as indeciding whether to administer this therapy to a particular individualor select another therapy that may be better suited to the individual,or to use a particular dosage, dosing schedule, or to modify otheraspects of a therapeutic regimen to effectively treat the individual,for example.

In addition to medical treatment, these uses may also be applied, forexample, in the context of clinical trials of a therapeutic agent (e.g.,a therapeutic agent that targets TRAF1 or other TRAF protein, PHF19, orC5 for the treatment of RA or other autoimmune/inflammatory disorders),such as to include particular individuals in a clinical trial who arepredicted to positively respond to the therapeutic agent based on theSNPs provided herein and/or to exclude particular individuals from aclinical trial who are predicted to not positively respond to thetherapeutic agent based on the SNPs provided herein (and/or to includethese particular individuals who are predicted to not positively respondto the therapeutic agent in a clinical trial for another therapeuticagent which they may benefit from). By using the SNPs provided herein totarget a therapeutic agent to individuals who are more likely topositively respond to the agent, the therapeutic agent is more likely tosucceed in clinical trials by showing positive efficacy and to thereforesatisfy the FDA requirements for approval. Additionally, individuals whoare more likely to experience toxic or other undesirable side effectsmay be excluded from being administered the therapeutic agent.Furthermore, by using the SNPs provided herein to determine an effectivedosage or dosing frequency, for example, the therapeutic agent may beless likely to exhibit toxicity or other undesirable side effects, aswell as more likely to achieve positive efficacy.

Reports, Transmission of Reports, Programmed Computers, and BusinessMethods

The results of a test (e.g., an individual's risk for autoimmune diseasesuch as RA, or an individual's predicted drug responsiveness, based onassaying one or more SNPs disclosed herein, and/or an individual'sallele(s)/genotype at one or more SNPs disclosed herein, etc.), and/orany other information pertaining to a test, may be referred to herein asa “report”. A tangible report can optionally be generated as part of atesting process (which may be interchangeably referred to herein as“reporting”, or as “providing” a report, “producing” a report, or“generating” a report).

Examples of tangible reports may include, but are not limited to,reports in paper (such as computer-generated printouts of test results)or equivalent formats and reports stored on computer readable medium(such as a CD, USB flash drive or other removable storage device,computer hard drive, or computer network server, etc.). Reports,particularly those stored on computer readable medium, can be part of adatabase, which may optionally be accessible via the internet (such as adatabase of patient records or genetic information stored on a computernetwork server, which may be a “secure database” that has securityfeatures that limit access to the report, such as to allow only thepatient and the patient's medical practitioners to view the report whilepreventing other unauthorized individuals from viewing the report, forexample). In addition to, or as an alternative to, generating a tangiblereport, reports can also be displayed on a computer screen (or thedisplay of another electronic device or instrument).

A report can include, for example, an individual's risk for autoimmunedisease, such as RA, or may just include the allele(s)/genotype that anindividual carries at one or more SNPs disclosed herein, which mayoptionally be linked to information regarding the significance of havingthe allele(s)/genotype at the SNP (for example, a report on computerreadable medium such as a network server may include hyperlink(s) to oneor more journal publications or web sites that describe themedical/biological implications, such as increased or decreased diseaserisk, for individuals having a certain allele/genotype at the SNP).Thus, for example, the report can include disease risk or othermedical/biological significance (e.g., drug responsiveness, etc.) aswell as optionally also including the allele/genotype information, orthe report may just include allele/genotype information withoutincluding disease risk or other medical/biological significance (suchthat an individual viewing the report can use the allele/genotypeinformation to determine the associated disease risk or othermedical/biological significance from a source outside of the reportitself, such as from a medical practitioner, publication, website, etc.,which may optionally be linked to the report such as by a hyperlink).

A report can further be “transmitted” or “communicated” (these terms maybe used herein interchangeably), such as to the individual who wastested, a medical practitioner (e.g., a doctor, nurse, clinicallaboratory practitioner, genetic counselor, etc.), a healthcareorganization, a clinical laboratory, and/or any other party or requesterintended to view or possess the report. The act of “transmitting” or“communicating” a report can be by any means known in the art, based onthe format of the report. Furthermore, “transmitting” or “communicating”a report can include delivering a report (“pushing”) and/or retrieving(“pulling”) a report. For example, reports can betransmitted/communicated by various means, including being physicallytransferred between parties (such as for reports in paper format) suchas by being physically delivered from one party to another, or by beingtransmitted electronically or in signal form (e.g., via e-mail or overthe internet, by facsimile, and/or by any wired or wirelesscommunication methods known in the art) such as by being retrieved froma database stored on a computer network server, etc.

In certain exemplary embodiments, the invention provides computers (orother apparatus/devices such as biomedical devices or laboratoryinstrumentation) programmed to carry out the methods described herein.For example, in certain embodiments, the invention provides a computerprogrammed to receive (i.e., as input) the identity (e.g., the allele(s)or genotype at a SNP) of one or more SNPs disclosed herein and provide(i.e., as output) the disease risk (e.g., an individual's risk forautoimmune disease such as RA) or other result (e.g., disease diagnosisor prognosis, drug responsiveness, etc.) based on the identity of theSNP(s). Such output (e.g., communication of disease risk, diseasediagnosis or prognosis, drug responsiveness, etc.) may be, for example,in the form of a report on computer readable medium, printed in paperform, and/or displayed on a computer screen or other display.

In various exemplary embodiments, the invention further provides methodsof doing business (with respect to methods of doing business, the terms“individual” and “customer” are used herein interchangeably). Forexample, exemplary methods of doing business can comprise assaying oneor more SNPs disclosed herein and providing a report that includes, forexample, a customer's risk for autoimmune disease such as RA (based onwhich allele(s)/genotype is present at the assayed SNP(s)) and/or thatincludes the allele(s)/genotype at the assayed SNP(s) which mayoptionally be linked to information (e.g., journal publications,websites, etc.) pertaining to disease risk or other biological/medicalsignificance such as by means of a hyperlink (the report may beprovided, for example, on a computer network server or other computerreadable medium that is internet-accessible, and the report may beincluded in a secure database that allows the customer to access theirreport while preventing other unauthorized individuals from viewing thereport), and optionally transmitting the report. Customers (or anotherparty who is associated with the customer, such as the customer'sdoctor, for example) can request/order (e.g., purchase) the test onlinevia the internet (or by phone, mail order, at an outlet/store, etc.),for example, and a kit can be sent/delivered (or otherwise provided) tothe customer (or another party on behalf of the customer, such as thecustomer's doctor, for example) for collection of a biological samplefrom the customer (e.g., a buccal swab for collecting buccal cells), andthe customer (or a party who collects the customer's biological sample)can submit their biological samples for assaying (e.g., to a laboratoryor party associated with the laboratory such as a party that accepts thecustomer samples on behalf of the laboratory, a party for whom thelaboratory is under the control of (e.g., the laboratory carries out theassays by request of the party or under a contract with the party, forexample), and/or a party that receives at least a portion of thecustomer's payment for the test). The report (e.g., results of the assayincluding, for example, the customer's disease risk and/orallele(s)/genotype at the assayed SNP(s)) may be provided to thecustomer by, for example, the laboratory that assays the SNP(s) or aparty associated with the laboratory (e.g., a party that receives atleast a portion of the customer's payment for the assay, or a party thatrequests the laboratory to carry out the assays or that contracts withthe laboratory for the assays to be carried out) or a doctor or othermedical practitioner who is associated with (e.g., employed by or havinga consulting or contracting arrangement with) the laboratory or with aparty associated with the laboratory, or the report may be provided to athird party (e.g., a doctor, genetic counselor, hospital, etc.) whichoptionally provides the report to the customer. In further embodiments,the customer may be a doctor or other medical practitioner, or ahospital, laboratory, medical insurance organization, or other medicalorganization that requests/orders (e.g., purchases) tests for thepurposes of having other individuals (e.g., their patients or customers)assayed for one or more SNPs disclosed herein and optionally obtaining areport of the assay results.

In certain exemplary methods of doing business, kits for collecting abiological sample from a customer (e.g., a buccal swab for collectingbuccal cells) are provided (e.g., for sale), such as at an outlet (e.g.,a drug store, pharmacy, general merchandise store, or any otherdesirable outlet), online via the internet, by mail order, etc., wherebycustomers can obtain (e.g., purchase) the kits, collect their ownbiological samples, and submit (e.g., send/deliver via mail) theirsamples to a laboratory which assays the samples for one or more SNPsdisclosed herein (such as to determine the customer's risk forautoimmune disease such as RA) and optionally provides a report to thecustomer (of the customer's disease risk based on their SNP genotype(s),for example) or provides the results of the assay to another party(e.g., a doctor, genetic counselor, hospital, etc.) which optionallyprovides a report to the customer (of the customer's disease risk basedon their SNP genotype(s), for example).

Isolated Nucleic Acid Molecules and SNP Detection Reagents & Kits

Tables 1 and 2 provide a variety of information about each SNP of thepresent invention that is associated with autoimmune disease(particularly RA), including the transcript sequences (SEQ ID NOS:1-16),genomic sequences (SEQ ID NOS:78-91), and protein sequences (SEQ IDNOS:17-32) of the encoded gene products (with the SNPs indicated by IUBcodes in the nucleic acid sequences). In addition, Tables 1 and 2include SNP context sequences, which generally include 100 nucleotideupstream (5′) plus 100 nucleotides downstream (3′) of each SNP position(SEQ ID NOS:33-77 correspond to transcript-based SNP context sequencesdisclosed in Table 1, and SEQ ID NOS:92-584 correspond to genomic-basedcontext sequences disclosed in Table 2), the alternative nucleotides(alleles) at each SNP position, and additional information about thevariant where relevant, such as SNP type (coding, missense, splice site,UTR, etc.), human populations in which the SNP was observed, observedallele frequencies, information about the encoded protein, etc.

Isolated Nucleic Acid Molecules

The present invention provides isolated nucleic acid molecules thatcontain one or more SNPs disclosed Table 1 and/or Table 2. Isolatednucleic acid molecules containing one or more SNPs disclosed in at leastone of Tables 1 and 2 may be interchangeably referred to throughout thepresent text as “SNP-containing nucleic acid molecules.” Isolatednucleic acid molecules may optionally encode a full-length variantprotein or fragment thereof. The isolated nucleic acid molecules of thepresent invention also include probes and primers (which are describedin greater detail below in the section entitled “SNP DetectionReagents”), which may be used for assaying the disclosed SNPs, andisolated full-length genes, transcripts, cDNA molecules, and fragmentsthereof, which may be used for such purposes as expressing an encodedprotein.

As used herein, an “isolated nucleic acid molecule” generally is onethat contains a SNP of the present invention or one that hybridizes tosuch molecule such as a nucleic acid with a complementary sequence, andis separated from most other nucleic acids present in the natural sourceof the nucleic acid molecule. Moreover, an “isolated” nucleic acidmolecule, such as a cDNA molecule containing a SNP of the presentinvention, can be substantially free of other cellular material, orculture medium when produced by recombinant techniques, or chemicalprecursors or other chemicals when chemically synthesized. A nucleicacid molecule can be fused to other coding or regulatory sequences andstill be considered “isolated.” Nucleic acid molecules present innon-human transgenic animals, which do not naturally occur in theanimal, are also considered “isolated.” For example, recombinant DNAmolecules contained in a vector are considered “isolated.” Furtherexamples of “isolated” DNA molecules include recombinant DNA moleculesmaintained in heterologous host cells, and purified (partially orsubstantially) DNA molecules in solution. Isolated RNA molecules includein vivo or in vitro RNA transcripts of the isolated SNP-containing DNAmolecules of the present invention. Isolated nucleic acid moleculesaccording to the present invention further include such moleculesproduced synthetically.

Generally, an isolated SNP-containing nucleic acid molecule comprisesone or more SNP positions disclosed by the present invention withflanking nucleotide sequences on either side of the SNP positions. Aflanking sequence can include nucleotide residues that are naturallyassociated with the SNP site and/or heterologous nucleotide sequences.Preferably, the flanking sequence is up to about 500, 300, 100, 60, 50,30, 25, 20, 15, 10, 8, or 4 nucleotides (or any other length in-between)on either side of a SNP position, or as long as the full-length gene orentire protein-coding sequence (or any portion thereof such as an exon),especially if the SNP-containing nucleic acid molecule is to be used toproduce a protein or protein fragment.

For full-length genes and entire protein-coding sequences, a SNPflanking sequence can be, for example, up to about 5 KB, 4 KB, 3 KB, 2KB, 1 KB on either side of the SNP. Furthermore, in such instances theisolated nucleic acid molecule comprises exonic sequences (includingprotein-coding and/or non-coding exonic sequences), but may also includeintronic sequences. Thus, any protein coding sequence may be eithercontiguous or separated by introns. The important point is that thenucleic acid is isolated from remote and unimportant flanking sequencesand is of appropriate length such that it can be subjected to thespecific manipulations or uses described herein such as recombinantprotein expression, preparation of probes and primers for assaying theSNP position, and other uses specific to the SNP-containing nucleic acidsequences.

An isolated SNP-containing nucleic acid molecule can comprise, forexample, a full-length gene or transcript, such as a gene isolated fromgenomic DNA (e.g., by cloning or PCR amplification), a cDNA molecule, oran mRNA transcript molecule. Polymorphic transcript sequences arereferred to in Table 1 and provided in the Sequence Listing (SEQ IDNOS:1-16), and polymorphic genomic sequences are referred to in Table 2and provided in the Sequence Listing (SEQ ID NOS:78-91). Furthermore,fragments of such full-length genes and transcripts that contain one ormore SNPs disclosed herein are also encompassed by the presentinvention, and such fragments may be used, for example, to express anypart of a protein, such as a particular functional domain or anantigenic epitope.

Thus, the present invention also encompasses fragments of the nucleicacid sequences as disclosed in Tables 1 and 2 (transcript sequences arereferred to in Table 1 as SEQ ID NOS:1-16, genomic sequences arereferred to in Table 2 as SEQ ID NOS:78-91, transcript-based SNP contextsequences are referred to in Table 1 as SEQ ID NOS:33-77, andgenomic-based SNP context sequences are referred to in Table 2 as SEQ IDNOS:92-584) and their complements. The actual sequences referred to inthe tables are provided in the Sequence Listing. A fragment typicallycomprises a contiguous nucleotide sequence at least about 8 or morenucleotides, more preferably at least about 12 or more nucleotides, andeven more preferably at least about 16 or more nucleotides. Furthermore,a fragment could comprise at least about 18, 20, 22, 25, 30, 40, 50, 60,80, 100, 150, 200, 250 or 500 nucleotides in length (or any other numberin between). The length of the fragment will be based on its intendeduse. For example, the fragment can encode epitope-bearing regions of avariant peptide or regions of a variant peptide that differ from thenormal/wild-type protein, or can be useful as a polynucleotide probe orprimer. Such fragments can be isolated using the nucleotide sequencesprovided in Table 1 and/or Table 2 for the synthesis of a polynucleotideprobe. A labeled probe can then be used, for example, to screen a cDNAlibrary, genomic DNA library, or mRNA to isolate nucleic acidcorresponding to the coding region. Further, primers can be used inamplification reactions, such as for purposes of assaying one or moreSNPs sites or for cloning specific regions of a gene.

An isolated nucleic acid molecule of the present invention furtherencompasses a SNP-containing polynucleotide that is the product of anyone of a variety of nucleic acid amplification methods, which are usedto increase the copy numbers of a polynucleotide of interest in anucleic acid sample. Such amplification methods are well known in theart, and they include but are not limited to, polymerase chain reaction(PCR) (U.S. Pat. Nos. 4,683,195 and 4,683,202; PCR Technology:Principles and Applications for DNA Amplification, ed. H. A. Erlich,Freeman Press, NY, N.Y. (1992)), ligase chain reaction (LCR) (Wu andWallace, Genomics 4:560 (1989); Landegren et al., Science 241:1077(1988)), strand displacement amplification (SDA) (U.S. Pat. Nos.5,270,184 and 5,422,252), transcription-mediated amplification (TMA)(U.S. Pat. No. 5,399,491), linked linear amplification (LLA) (U.S. Pat.No. 6,027,923) and the like, and isothermal amplification methods suchas nucleic acid sequence based amplification (NASBA) and self-sustainedsequence replication (Guatelli et al., Proc Natl Acad Sci USA 87:1874(1990)). Based on such methodologies, a person skilled in the art canreadily design primers in any suitable regions 5′ and 3′ to a SNPdisclosed herein. Such primers may be used to amplify DNA of any lengthso long that it contains the SNP of interest in its sequence.

As used herein, an “amplified polynucleotide” of the invention is aSNP-containing nucleic acid molecule whose amount has been increased atleast two fold by any nucleic acid amplification method performed invitro as compared to its starting amount in a test sample. In otherpreferred embodiments, an amplified polynucleotide is the result of atleast ten fold, fifty fold, one hundred fold, one thousand fold, or eventen thousand fold increase as compared to its starting amount in a testsample. In a typical PCR amplification, a polynucleotide of interest isoften amplified at least fifty thousand fold in amount over theunamplified genomic DNA, but the precise amount of amplification neededfor an assay depends on the sensitivity of the subsequent detectionmethod used.

Generally, an amplified polynucleotide is at least about 16 nucleotidesin length. More typically, an amplified polynucleotide is at least about20 nucleotides in length. In a preferred embodiment of the invention, anamplified polynucleotide is at least about 30 nucleotides in length. Ina more preferred embodiment of the invention, an amplifiedpolynucleotide is at least about 32, 40, 45, 50, or 60 nucleotides inlength. In yet another preferred embodiment of the invention, anamplified polynucleotide is at least about 100, 200, 300, 400, or 500nucleotides in length. While the total length of an amplifiedpolynucleotide of the invention can be as long as an exon, an intron orthe entire gene where the SNP of interest resides, an amplified productis typically up to about 1,000 nucleotides in length (although certainamplification methods may generate amplified products greater than 1000nucleotides in length). More preferably, an amplified polynucleotide isnot greater than about 600-700 nucleotides in length. It is understoodthat irrespective of the length of an amplified polynucleotide, a SNP ofinterest may be located anywhere along its sequence.

In a specific embodiment of the invention, the amplified product is atleast about 201 nucleotides in length, comprises one of thetranscript-based context sequences or the genomic-based contextsequences shown in Tables 1 and 2. Such a product may have additionalsequences on its 5′ end or 3′ end or both. In another embodiment, theamplified product is about 101 nucleotides in length, and it contains aSNP disclosed herein. Preferably, the SNP is located at the middle ofthe amplified product (e.g., at position 101 in an amplified productthat is 201 nucleotides in length, or at position 51 in an amplifiedproduct that is 101 nucleotides in length), or within 1, 2, 3, 4, 5, 6,7, 8, 9, 10, 12, 15, or 20 nucleotides from the middle of the amplifiedproduct. However, as indicated above, the SNP of interest may be locatedanywhere along the length of the amplified product.

The present invention provides isolated nucleic acid molecules thatcomprise, consist of, or consist essentially of one or morepolynucleotide sequences that contain one or more SNPs disclosed herein,complements thereof, and SNP-containing fragments thereof.

Accordingly, the present invention provides nucleic acid molecules thatconsist of any of the nucleotide sequences shown in Table 1 and/or Table2 (transcript sequences are referred to in Table 1 as SEQ ID NOS:1-16,genomic sequences are referred to in Table 2 as SEQ ID NOS:78-91,transcript-based SNP context sequences are referred to in Table 1 as SEQID NOS:33-77, and genomic-based SNP context sequences are referred to inTable 2 as SEQ ID NOS:92-584), or any nucleic acid molecule that encodesany of the variant proteins referred to in Table 1 (SEQ ID NOS:17-32).The actual sequences referred to in the tables are provided in theSequence Listing. A nucleic acid molecule consists of a nucleotidesequence when the nucleotide sequence is the complete nucleotidesequence of the nucleic acid molecule.

The present invention further provides nucleic acid molecules thatconsist essentially of any of the nucleotide sequences referred to inTable 1 and/or Table 2 (transcript sequences are referred to in Table 1as SEQ ID NOS:1-16, genomic sequences are referred to in Table 2 as SEQID NOS:78-91, transcript-based SNP context sequences are referred to inTable 1 as SEQ ID NOS:33-77, and genomic-based SNP context sequences arereferred to in Table 2 as SEQ ID NOS:92-584), or any nucleic acidmolecule that encodes any of the variant proteins referred to in Table 1(SEQ ID NOS:17-32). The actual sequences referred to in the tables areprovided in the Sequence Listing. A nucleic acid molecule consistsessentially of a nucleotide sequence when such a nucleotide sequence ispresent with only a few additional nucleotide residues in the finalnucleic acid molecule.

The present invention further provides nucleic acid molecules thatcomprise any of the nucleotide sequences shown in Table 1 and/or Table 2or a SNP-containing fragment thereof (transcript sequences are referredto in Table 1 as SEQ ID NOS:1-16, genomic sequences are referred to inTable 2 as SEQ ID NOS:78-91, transcript-based SNP context sequences arereferred to in Table 1 as SEQ ID NOS:33-77, and genomic-based SNPcontext sequences are referred to in Table 2 as SEQ ID NOS:92-584), orany nucleic acid molecule that encodes any of the variant proteinsprovided in Table 1 (SEQ ID NOS:17-32). The actual sequences referred toin the tables are provided in the Sequence Listing. A nucleic acidmolecule comprises a nucleotide sequence when the nucleotide sequence isat least part of the final nucleotide sequence of the nucleic acidmolecule. In such a fashion, the nucleic acid molecule can be only thenucleotide sequence or have additional nucleotide residues, such asresidues that are naturally associated with it or heterologousnucleotide sequences. Such a nucleic acid molecule can have one to a fewadditional nucleotides or can comprise many more additional nucleotides.A brief description of how various types of these nucleic acid moleculescan be readily made and isolated is provided below, and such techniquesare well known to those of ordinary skill in the art. Sambrook andRussell, Molecular Cloning: A Laboratory Manual, Cold Spring HarborPress, N.Y. (2000).

The isolated nucleic acid molecules can encode mature proteins plusadditional amino or carboxyl-terminal amino acids or both, or aminoacids interior to the mature peptide (when the mature form has more thanone peptide chain, for instance). Such sequences may play a role inprocessing of a protein from precursor to a mature form, facilitateprotein trafficking, prolong or shorten protein half-life, or facilitatemanipulation of a protein for assay or production. As generally is thecase in situ, the additional amino acids may be processed away from themature protein by cellular enzymes.

Thus, the isolated nucleic acid molecules include, but are not limitedto, nucleic acid molecules having a sequence encoding a peptide alone, asequence encoding a mature peptide and additional coding sequences suchas a leader or secretory sequence (e.g., a pre-pro or pro-proteinsequence), a sequence encoding a mature peptide with or withoutadditional coding sequences, plus additional non-coding sequences, forexample introns and non-coding 5′ and 3′ sequences such as transcribedbut untranslated sequences that play a role in, for example,transcription, mRNA processing (including splicing and polyadenylationsignals), ribosome binding, and/or stability of mRNA. In addition, thenucleic acid molecules may be fused to heterologous marker sequencesencoding, for example, a peptide that facilitates purification.

Isolated nucleic acid molecules can be in the form of RNA, such as mRNA,or in the form DNA, including cDNA and genomic DNA, which may beobtained, for example, by molecular cloning or produced by chemicalsynthetic techniques or by a combination thereof. Sambrook and Russell,Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Press, N.Y.(2000). Furthermore, isolated nucleic acid molecules, particularly SNPdetection reagents such as probes and primers, can also be partially orcompletely in the form of one or more types of nucleic acid analogs,such as peptide nucleic acid (PNA). U.S. Pat. Nos. 5,539,082; 5,527,675;5,623,049; and 5,714,331. The nucleic acid, especially DNA, can bedouble-stranded or single-stranded. Single-stranded nucleic acid can bethe coding strand (sense strand) or the complementary non-coding strand(anti-sense strand). DNA, RNA, or PNA segments can be assembled, forexample, from fragments of the human genome (in the case of DNA or RNA)or single nucleotides, short oligonucleotide linkers, or from a seriesof oligonucleotides, to provide a synthetic nucleic acid molecule.Nucleic acid molecules can be readily synthesized using the sequencesprovided herein as a reference; oligonucleotide and PNA oligomersynthesis techniques are well known in the art. See, e.g., Corey,“Peptide nucleic acids: expanding the scope of nucleic acidrecognition,” Trends Biotechnol 15(6):224-9 (June 1997), and Hyrup etal., “Peptide nucleic acids (PNA): synthesis, properties and potentialapplications,” Bioorg Med Chem 4(1):5-23) (January 1996). Furthermore,large-scale automated oligonucleotide/PNA synthesis (including synthesison an array or bead surface or other solid support) can readily beaccomplished using commercially available nucleic acid synthesizers,such as the Applied Biosystems (Foster City, Calif.) 3900High-Throughput DNA Synthesizer or Expedite 8909 Nucleic Acid SynthesisSystem, and the sequence information provided herein.

The present invention encompasses nucleic acid analogs that containmodified, synthetic, or non-naturally occurring nucleotides orstructural elements or other alternative/modified nucleic acidchemistries known in the art. Such nucleic acid analogs are useful, forexample, as detection reagents (e.g., primers/probes) for detecting oneor more SNPs identified in Table 1 and/or Table 2. Furthermore,kits/systems (such as beads, arrays, etc.) that include these analogsare also encompassed by the present invention. For example, PNAoligomers that are based on the polymorphic sequences of the presentinvention are specifically contemplated. PNA oligomers are analogs ofDNA in which the phosphate backbone is replaced with a peptide-likebackbone. Lagriffoul et al., Bioorganic & Medicinal Chemistry Letters4:1081-1082 (1994); Petersen et al., Bioorganic & Medicinal ChemistryLetters 6:793-796 (1996); Kumar et al., Organic Letters 3(9):1269-1272(2001); WO 96/04000. PNA hybridizes to complementary RNA or DNA withhigher affinity and specificity than conventional oligonucleotides andoligonucleotide analogs. The properties of PNA enable novel molecularbiology and biochemistry applications unachievable with traditionaloligonucleotides and peptides.

Additional examples of nucleic acid modifications that improve thebinding properties and/or stability of a nucleic acid include the use ofbase analogs such as inosine, intercalators (U.S. Pat. No. 4,835,263)and the minor groove binders (U.S. Pat. No. 5,801,115). Thus, referencesherein to nucleic acid molecules, SNP-containing nucleic acid molecules,SNP detection reagents (e.g., probes and primers),oligonucleotides/polynucleotides include PNA oligomers and other nucleicacid analogs. Other examples of nucleic acid analogs andalternative/modified nucleic acid chemistries known in the art aredescribed in Current Protocols in Nucleic Acid Chemistry, John Wiley &Sons, N.Y. (2002).

The present invention further provides nucleic acid molecules thatencode fragments of the variant polypeptides disclosed herein as well asnucleic acid molecules that encode obvious variants of such variantpolypeptides. Such nucleic acid molecules may be naturally occurring,such as paralogs (different locus) and orthologs (different organism),or may be constructed by recombinant DNA methods or by chemicalsynthesis. Non-naturally occurring variants may be made by mutagenesistechniques, including those applied to nucleic acid molecules, cells, ororganisms. Accordingly, the variants can contain nucleotidesubstitutions, deletions, inversions and insertions (in addition to theSNPs disclosed in Tables 1 and 2). Variation can occur in either or boththe coding and non-coding regions. The variations can produceconservative and/or non-conservative amino acid substitutions.

Further variants of the nucleic acid molecules disclosed in Tables 1 and2, such as naturally occurring allelic variants (as well as orthologsand paralogs) and synthetic variants produced by mutagenesis techniques,can be identified and/or produced using methods well known in the art.Such further variants can comprise a nucleotide sequence that shares atleast 70-80%, 80-85%, 85-90%, 91%, 92%, 93%, 94%, 95%, 96%, 97%, 98%, or99% sequence identity with a nucleic acid sequence disclosed in Table 1and/or Table 2 (or a fragment thereof) and that includes a novel SNPallele disclosed in Table 1 and/or Table 2. Further, variants cancomprise a nucleotide sequence that encodes a polypeptide that shares atleast 70-80%, 80-85%, 85-90%, 91%, 92%, 93%, 94%, 95%, 96%, 97%, 98%, or99% sequence identity with a polypeptide sequence disclosed in Table 1(or a fragment thereof) and that includes a novel SNP allele disclosedin Table 1 and/or Table 2. Thus, an aspect of the present invention thatis specifically contemplated are isolated nucleic acid molecules thathave a certain degree of sequence variation compared with the sequencesshown in Tables 1-2, but that contain a novel SNP allele disclosedherein. In other words, as long as an isolated nucleic acid moleculecontains a novel SNP allele disclosed herein, other portions of thenucleic acid molecule that flank the novel SNP allele can vary to somedegree from the specific transcript, genomic, and context sequencesreferred to and shown in Tables 1 and 2, and can encode a polypeptidethat varies to some degree from the specific polypeptide sequencesreferred to in Table 1.

To determine the percent identity of two amino acid sequences or twonucleotide sequences of two molecules that share sequence homology, thesequences are aligned for optimal comparison purposes (e.g., gaps can beintroduced in one or both of a first and a second amino acid or nucleicacid sequence for optimal alignment and non-homologous sequences can bedisregarded for comparison purposes). In a preferred embodiment, atleast 30%, 40%, 50%, 60%, 70%, 80%, or 90% or more of the length of areference sequence is aligned for comparison purposes. The amino acidresidues or nucleotides at corresponding amino acid positions ornucleotide positions are then compared. When a position in the firstsequence is occupied by the same amino acid residue or nucleotide as thecorresponding position in the second sequence, then the molecules areidentical at that position (as used herein, amino acid or nucleic acid“identity” is equivalent to amino acid or nucleic acid “homology”). Thepercent identity between the two sequences is a function of the numberof identical positions shared by the sequences, taking into account thenumber of gaps, and the length of each gap, which need to be introducedfor optimal alignment of the two sequences.

The comparison of sequences and determination of percent identitybetween two sequences can be accomplished using a mathematicalalgorithm. Computational Molecular Biology, A.M. Lesk, ed., OxfordUniversity Press, N.Y (1988); Biocomputing: Informatics and GenomeProjects, D. W. Smith, ed., Academic Press, N.Y. (1993); ComputerAnalysis of Sequence Data, Part 1, A. M. Griffin and H. G. Griffin,eds., Humana Press, N.J. (1994); Sequence Analysis in Molecular Biology,G. von Heinje, ed., Academic Press, N.Y. (1987); and Sequence AnalysisPrimer, M. Gribskov and J. Devereux, eds., M. Stockton Press, N.Y.(1991). In a preferred embodiment, the percent identity between twoamino acid sequences is determined using the Needleman and Wunschalgorithm (J Mol Biol (48):444-453 (1970)) which has been incorporatedinto the GAP program in the GCG software package, using either a Blossom62 matrix or a PAM250 matrix, and a gap weight of 16, 14, 12, 10, 8, 6,or 4 and a length weight of 1, 2, 3, 4, 5, or 6.

In yet another preferred embodiment, the percent identity between twonucleotide sequences is determined using the GAP program in the GCGsoftware package using a NWSgapdna.CMP matrix and a gap weight of 40,50, 60, 70, or 80 and a length weight of 1, 2, 3, 4, 5, or 6. J.Devereux et al., Nucleic Acids Res. 12(1):387 (1984). In anotherembodiment, the percent identity between two amino acid or nucleotidesequences is determined using the algorithm of E. Myers and W. Miller(CABIOS 4:11-17 (1989)) which has been incorporated into the ALIGNprogram (version 2.0), using a PAM120 weight residue table, a gap lengthpenalty of 12, and a gap penalty of 4.

The nucleotide and amino acid sequences of the present invention canfurther be used as a “query sequence” to perform a search againstsequence databases; for example, to identify other family members orrelated sequences. Such searches can be performed using the NBLAST andXBLAST programs (version 2.0). Altschul et al., J Mol Biol 215:403-10(1990). BLAST nucleotide searches can be performed with the NBLASTprogram, score=100, wordlength=12 to obtain nucleotide sequenceshomologous to the nucleic acid molecules of the invention. BLAST proteinsearches can be performed with the XBLAST program, score=50,wordlength=3 to obtain amino acid sequences homologous to the proteinsof the invention. To obtain gapped alignments for comparison purposes,Gapped BLAST can be utilized. Altschul et al., Nucleic Acids Res25(17):3389-3402 (1997). When utilizing BLAST and gapped BLAST programs,the default parameters of the respective programs (e.g., XBLAST andNBLAST) can be used. In addition to BLAST, examples of other search andsequence comparison programs used in the art include, but are notlimited to, FASTA (Pearson, Methods Mol Biol 25, 365-389 (1994)) andKERR (Dufresne et al., Nat Biotechnol 20(12):1269-71 (December 2002)).For further information regarding bioinformatics techniques, see CurrentProtocols in Bioinformatics, John Wiley & Sons, Inc., N.Y.

The present invention further provides non-coding fragments of thenucleic acid molecules disclosed in Table 1 and/or Table 2. Preferrednon-coding fragments include, but are not limited to, promotersequences, enhancer sequences, intronic sequences, 5′ untranslatedregions (UTRs), 3′ untranslated regions, gene modulating sequences andgene termination sequences. Such fragments are useful, for example, incontrolling heterologous gene expression and in developing screens toidentify gene-modulating agents.

SNP Detection Reagents

In a specific aspect of the present invention, the SNPs disclosed inTable 1 and/or Table 2, and their associated transcript sequences(referred to in Table 1 as SEQ ID NOS:1-16), genomic sequences (referredto in Table 2 as SEQ ID NOS:78-91), and context sequences(transcript-based context sequences are referred to in Table 1 as SEQ IDNOS:33-77; genomic-based context sequences are provided in Table 2 asSEQ ID NOS:92-584), can be used for the design of SNP detectionreagents. The actual sequences referred to in the tables are provided inthe Sequence Listing. As used herein, a “SNP detection reagent” is areagent that specifically detects a specific target SNP positiondisclosed herein, and that is preferably specific for a particularnucleotide (allele) of the target SNP position (i.e., the detectionreagent preferably can differentiate between different alternativenucleotides at a target SNP position, thereby allowing the identity ofthe nucleotide present at the target SNP position to be determined).Typically, such detection reagent hybridizes to a target SNP-containingnucleic acid molecule by complementary base-pairing in a sequencespecific manner, and discriminates the target variant sequence fromother nucleic acid sequences such as an art-known form in a test sample.An example of a detection reagent is a probe that hybridizes to a targetnucleic acid containing one or more of the SNPs referred to in Table 1and/or Table 2. In a preferred embodiment, such a probe candifferentiate between nucleic acids having a particular nucleotide(allele) at a target SNP position from other nucleic acids that have adifferent nucleotide at the same target SNP position. In addition, adetection reagent may hybridize to a specific region 5′ and/or 3′ to aSNP position, particularly a region corresponding to the contextsequences referred to in Table 1 and/or Table 2 (transcript-basedcontext sequences are referred to in Table 1 as SEQ ID NOS:33-77;genomic-based context sequences are referred to in Table 2 as SEQ IDNOS:92-584). Another example of a detection reagent is a primer thatacts as an initiation point of nucleotide extension along acomplementary strand of a target polynucleotide. The SNP sequenceinformation provided herein is also useful for designing primers, e.g.allele-specific primers, to amplify (e.g., using PCR) any SNP of thepresent invention.

In one preferred embodiment of the invention, a SNP detection reagent isan isolated or synthetic DNA or RNA polynucleotide probe or primer orPNA oligomer, or a combination of DNA, RNA and/or PNA, that hybridizesto a segment of a target nucleic acid molecule containing a SNPidentified in Table 1 and/or Table 2. A detection reagent in the form ofa polynucleotide may optionally contain modified base analogs,intercalators or minor groove binders. Multiple detection reagents suchas probes may be, for example, affixed to a solid support (e.g., arraysor beads) or supplied in solution (e.g. probe/primer sets for enzymaticreactions such as PCR, RT-PCR, TaqMan assays, or primer-extensionreactions) to form a SNP detection kit.

A probe or primer typically is a substantially purified oligonucleotideor PNA oligomer. Such oligonucleotide typically comprises a region ofcomplementary nucleotide sequence that hybridizes under stringentconditions to at least about 8, 10, 12, 16, 18, 20, 22, 25, 30, 40, 50,55, 60, 65, 70, 80, 90, 100, 120 (or any other number in-between) ormore consecutive nucleotides in a target nucleic acid molecule.Depending on the particular assay, the consecutive nucleotides caneither include the target SNP position, or be a specific region in closeenough proximity 5′ and/or 3′ to the SNP position to carry out thedesired assay.

Other preferred primer and probe sequences can readily be determinedusing the transcript sequences (SEQ ID NOS:1-16), genomic sequences (SEQID NOS:78-91), and SNP context sequences (transcript-based contextsequences are referred to in Table 1 as SEQ ID NOS:33-77; genomic-basedcontext sequences are referred to in Table 2 as SEQ ID NOS:92-584)disclosed in the Sequence Listing and in Tables 1 and 2. The actualsequences referred to in the tables are provided in the SequenceListing. It will be apparent to one of skill in the art that suchprimers and probes are directly useful as reagents for genotyping theSNPs of the present invention, and can be incorporated into anykit/system format.

In order to produce a probe or primer specific for a targetSNP-containing sequence, the gene/transcript and/or context sequencesurrounding the SNP of interest is typically examined using a computeralgorithm that starts at the 5′ or at the 3′ end of the nucleotidesequence. Typical algorithms will then identify oligomers of definedlength that are unique to the gene/SNP context sequence, have a GCcontent within a range suitable for hybridization, lack predictedsecondary structure that may interfere with hybridization, and/orpossess other desired characteristics or that lack other undesiredcharacteristics.

A primer or probe of the present invention is typically at least about 8nucleotides in length. In one embodiment of the invention, a primer or aprobe is at least about 10 nucleotides in length. In a preferredembodiment, a primer or a probe is at least about 12 nucleotides inlength. In a more preferred embodiment, a primer or probe is at leastabout 16, 17, 18, 19, 20, 21, 22, 23, 24 or 25 nucleotides in length.While the maximal length of a probe can be as long as the targetsequence to be detected, depending on the type of assay in which it isemployed, it is typically less than about 50, 60, 65, or 70 nucleotidesin length. In the case of a primer, it is typically less than about 30nucleotides in length. In a specific preferred embodiment of theinvention, a primer or a probe is within the length of about 18 andabout 28 nucleotides. However, in other embodiments, such as nucleicacid arrays and other embodiments in which probes are affixed to asubstrate, the probes can be longer, such as on the order of 30-70, 75,80, 90, 100, or more nucleotides in length (see the section belowentitled “SNP Detection Kits and Systems”).

For analyzing SNPs, it may be appropriate to use oligonucleotidesspecific for alternative SNP alleles. Such oligonucleotides that detectsingle nucleotide variations in target sequences may be referred to bysuch terms as “allele-specific oligonucleotides,” “allele-specificprobes,” or “allele-specific primers.” The design and use ofallele-specific probes for analyzing polymorphisms is described in,e.g., Mutation Detection: A Practical Approach, Cotton et al., eds.,Oxford University Press (1998); Saiki et al., Nature 324:163-166 (1986);Dattagupta, EP235,726; and Saiki, WO 89/11548.

While the design of each allele-specific primer or probe depends onvariables such as the precise composition of the nucleotide sequencesflanking a SNP position in a target nucleic acid molecule, and thelength of the primer or probe, another factor in the use of primers andprobes is the stringency of the condition under which the hybridizationbetween the probe or primer and the target sequence is performed. Higherstringency conditions utilize buffers with lower ionic strength and/or ahigher reaction temperature, and tend to require a more perfect matchbetween probe/primer and a target sequence in order to form a stableduplex. If the stringency is too high, however, hybridization may notoccur at all. In contrast, lower stringency conditions utilize bufferswith higher ionic strength and/or a lower reaction temperature, andpermit the formation of stable duplexes with more mismatched basesbetween a probe/primer and a target sequence. By way of example and notlimitation, exemplary conditions for high stringency hybridizationconditions using an allele-specific probe are as follows:prehybridization with a solution containing 5× standard saline phosphateEDTA (SSPE), 0.5% NaDodSO₄ (SDS) at 55° C., and incubating probe withtarget nucleic acid molecules in the same solution at the sametemperature, followed by washing with a solution containing 2×SSPE, and0.1% SDS at 55° C. or room temperature.

Moderate stringency hybridization conditions may be used forallele-specific primer extension reactions with a solution containing,e.g., about 50 mM KCl at about 46° C. Alternatively, the reaction may becarried out at an elevated temperature such as 60° C. In anotherembodiment, a moderately stringent hybridization condition suitable foroligonucleotide ligation assay (OLA) reactions wherein two probes areligated if they are completely complementary to the target sequence mayutilize a solution of about 100 mM KCl at a temperature of 46° C.

In a hybridization-based assay, allele-specific probes can be designedthat hybridize to a segment of target DNA from one individual but do nothybridize to the corresponding segment from another individual due tothe presence of different polymorphic forms (e.g., alternative SNPalleles/nucleotides) in the respective DNA segments from the twoindividuals. Hybridization conditions should be sufficiently stringentthat there is a significant detectable difference in hybridizationintensity between alleles, and preferably an essentially binaryresponse, whereby a probe hybridizes to only one of the alleles orsignificantly more strongly to one allele. While a probe may be designedto hybridize to a target sequence that contains a SNP site such that theSNP site aligns anywhere along the sequence of the probe, the probe ispreferably designed to hybridize to a segment of the target sequencesuch that the SNP site aligns with a central position of the probe(e.g., a position within the probe that is at least three nucleotidesfrom either end of the probe). This design of probe generally achievesgood discrimination in hybridization between different allelic forms.

In another embodiment, a probe or primer may be designed to hybridize toa segment of target DNA such that the SNP aligns with either the 5′ mostend or the 3′ most end of the probe or primer. In a specific preferredembodiment that is particularly suitable for use in a oligonucleotideligation assay (U.S. Pat. No. 4,988,617), the 3′ most nucleotide of theprobe aligns with the SNP position in the target sequence.

Oligonucleotide probes and primers may be prepared by methods well knownin the art. Chemical synthetic methods include, but are not limited to,the phosphotriester method described by Narang et al., Methods inEnzymology 68:90 (1979); the phosphodiester method described by Brown etal., Methods in Enzymology 68:109 (1979); the diethylphosphoamidatemethod described by Beaucage et al., Tetrahedron Letters 22:1859 (1981);and the solid support method described in U.S. Pat. No. 4,458,066.

Allele-specific probes are often used in pairs (or, less commonly, insets of 3 or 4, such as if a SNP position is known to have 3 or 4alleles, respectively, or to assay both strands of a nucleic acidmolecule for a target SNP allele), and such pairs may be identicalexcept for a one nucleotide mismatch that represents the allelicvariants at the SNP position. Commonly, one member of a pair perfectlymatches a reference form of a target sequence that has a more common SNPallele (i.e., the allele that is more frequent in the target population)and the other member of the pair perfectly matches a form of the targetsequence that has a less common SNP allele (i.e., the allele that israrer in the target population). In the case of an array, multiple pairsof probes can be immobilized on the same support for simultaneousanalysis of multiple different polymorphisms.

In one type of PCR-based assay, an allele-specific primer hybridizes toa region on a target nucleic acid molecule that overlaps a SNP positionand only primes amplification of an allelic form to which the primerexhibits perfect complementarity. Gibbs, Nucleic Acid Res 17:2427-2448(1989). Typically, the primer's 3′-most nucleotide is aligned with andcomplementary to the SNP position of the target nucleic acid molecule.This primer is used in conjunction with a second primer that hybridizesat a distal site. Amplification proceeds from the two primers, producinga detectable product that indicates which allelic form is present in thetest sample. A control is usually performed with a second pair ofprimers, one of which shows a single base mismatch at the polymorphicsite and the other of which exhibits perfect complementarity to a distalsite. The single-base mismatch prevents amplification or substantiallyreduces amplification efficiency, so that either no detectable productis formed or it is formed in lower amounts or at a slower pace. Themethod generally works most effectively when the mismatch is at the3′-most position of the oligonucleotide (i.e., the 3′-most position ofthe oligonucleotide aligns with the target SNP position) because thisposition is most destabilizing to elongation from the primer (see, e.g.,WO 93/22456). This PCR-based assay can be utilized as part of the TaqManassay, described below.

In a specific embodiment of the invention, a primer of the inventioncontains a sequence substantially complementary to a segment of a targetSNP-containing nucleic acid molecule except that the primer has amismatched nucleotide in one of the three nucleotide positions at the3′-most end of the primer, such that the mismatched nucleotide does notbase pair with a particular allele at the SNP site. In a preferredembodiment, the mismatched nucleotide in the primer is the second fromthe last nucleotide at the 3′-most position of the primer. In a morepreferred embodiment, the mismatched nucleotide in the primer is thelast nucleotide at the 3′-most position of the primer.

In another embodiment of the invention, a SNP detection reagent of theinvention is labeled with a fluorogenic reporter dye that emits adetectable signal. While the preferred reporter dye is a fluorescentdye, any reporter dye that can be attached to a detection reagent suchas an oligonucleotide probe or primer is suitable for use in theinvention. Such dyes include, but are not limited to, Acridine, AMCA,BODIPY, Cascade Blue, Cy2, Cy3, Cy5, Cy7, Dabcyl, Edans, Eosin,Erythrosin, Fluorescein, 6-Fam, Tet, Joe, Hex, Oregon Green, Rhodamine,Rhodol Green, Tamra, Rox, and Texas Red.

In yet another embodiment of the invention, the detection reagent may befurther labeled with a quencher dye such as Tamra, especially when thereagent is used as a self-quenching probe such as a TaqMan (U.S. Pat.Nos. 5,210,015 and 5,538,848) or Molecular Beacon probe (U.S. Pat. Nos.5,118,801 and 5,312,728), or other stemless or linear beacon probe(Livak et al., PCR Method Appl 4:357-362 (1995); Tyagi et al., NatureBiotechnology 14:303-308 (1996); Nazarenko et al., Nucl Acids Res25:2516-2521 (1997); U.S. Pat. Nos. 5,866,336 and 6,117,635.

The detection reagents of the invention may also contain other labels,including but not limited to, biotin for streptavidin binding, haptenfor antibody binding, and oligonucleotide for binding to anothercomplementary oligonucleotide such as pairs of zipcodes.

The present invention also contemplates reagents that do not contain (orthat are complementary to) a SNP nucleotide identified herein but thatare used to assay one or more SNPs disclosed herein. For example,primers that flank, but do not hybridize directly to a target SNPposition provided herein are useful in primer extension reactions inwhich the primers hybridize to a region adjacent to the target SNPposition (i.e., within one or more nucleotides from the target SNPsite). During the primer extension reaction, a primer is typically notable to extend past a target SNP site if a particular nucleotide(allele) is present at that target SNP site, and the primer extensionproduct can be detected in order to determine which SNP allele ispresent at the target SNP site. For example, particular ddNTPs aretypically used in the primer extension reaction to terminate primerextension once a ddNTP is incorporated into the extension product (aprimer extension product which includes a ddNTP at the 3′-most end ofthe primer extension product, and in which the ddNTP is a nucleotide ofa SNP disclosed herein, is a composition that is specificallycontemplated by the present invention). Thus, reagents that bind to anucleic acid molecule in a region adjacent to a SNP site and that areused for assaying the SNP site, even though the bound sequences do notnecessarily include the SNP site itself, are also contemplated by thepresent invention.

SNP Detection Kits and Systems

A person skilled in the art will recognize that, based on the SNP andassociated sequence information disclosed herein, detection reagents canbe developed and used to assay any SNP of the present inventionindividually or in combination, and such detection reagents can bereadily incorporated into one of the established kit or system formatswhich are well known in the art. The terms “kits” and “systems,” as usedherein in the context of SNP detection reagents, are intended to referto such things as combinations of multiple SNP detection reagents, orone or more SNP detection reagents in combination with one or more othertypes of elements or components (e.g., other types of biochemicalreagents, containers, packages such as packaging intended for commercialsale, substrates to which SNP detection reagents are attached,electronic hardware components, etc.). Accordingly, the presentinvention further provides SNP detection kits and systems, including butnot limited to, packaged probe and primer sets (e.g. TaqMan probe/primersets), arrays/microarrays of nucleic acid molecules, and beads thatcontain one or more probes, primers, or other detection reagents fordetecting one or more SNPs of the present invention. The kits/systemscan optionally include various electronic hardware components; forexample, arrays (“DNA chips”) and microfluidic systems (“lab-on-a-chip”systems) provided by various manufacturers typically comprise hardwarecomponents. Other kits/systems (e.g., probe/primer sets) may not includeelectronic hardware components, but may be comprised of, for example,one or more SNP detection reagents (along with, optionally, otherbiochemical reagents) packaged in one or more containers.

In some embodiments, a SNP detection kit typically contains one or moredetection reagents and other components (e.g. a buffer, enzymes such asDNA polymerases or ligases, chain extension nucleotides such asdeoxynucleotide triphosphates, and in the case of Sanger-type DNAsequencing reactions, chain terminating nucleotides, positive controlsequences, negative control sequences, and the like) necessary to carryout an assay or reaction, such as amplification and/or detection of aSNP-containing nucleic acid molecule. A kit may further contain meansfor determining the amount of a target nucleic acid, and means forcomparing the amount with a standard, and can comprise instructions forusing the kit to detect the SNP-containing nucleic acid molecule ofinterest. In one embodiment of the present invention, kits are providedwhich contain the necessary reagents to carry out one or more assays todetect one or more SNPs disclosed herein. In a preferred embodiment ofthe present invention, SNP detection kits/systems are in the form ofnucleic acid arrays, or compartmentalized kits, includingmicrofluidic/lab-on-a-chip systems.

SNP detection kits/systems may contain, for example, one or more probes,or pairs of probes, that hybridize to a nucleic acid molecule at or neareach target SNP position. Multiple pairs of allele-specific probes maybe included in the kit/system to simultaneously assay large numbers ofSNPs, at least one of which is a SNP of the present invention. In somekits/systems, the allele-specific probes are immobilized to a substratesuch as an array or bead. For example, the same substrate can compriseallele-specific probes for detecting at least 1; 10; 100; 1000; 10,000;100,000 (or any other number in-between) or substantially all of theSNPs shown in Table 1 and/or Table 2.

The terms “arrays,” “microarrays,” and “DNA chips” are used hereininterchangeably to refer to an array of distinct polynucleotides affixedto a substrate, such as glass, plastic, paper, nylon or other type ofmembrane, filter, chip, or any other suitable solid support. Thepolynucleotides can be synthesized directly on the substrate, orsynthesized separate from the substrate and then affixed to thesubstrate. In one embodiment, the microarray is prepared and usedaccording to the methods described in Chee et al., U.S. Pat. No.5,837,832 and PCT application WO95/11995; D. J. Lockhart et al., NatBiotech 14:1675-1680 (1996); and M. Schena et al., Proc Natl Acad Sci93:10614-10619 (1996), all of which are incorporated herein in theirentirety by reference. In other embodiments, such arrays are produced bythe methods described by Brown et al., U.S. Pat. No. 5,807,522.

Nucleic acid arrays are reviewed in the following references: Zammatteoet al., “New chips for molecular biology and diagnostics,” BiotechnolAnnu Rev 8:85-101 (2002); Sosnowski et al., “Active microelectronicarray system for DNA hybridization, genotyping and pharmacogenomicapplications,” Psychiatr Genet. 12(4):181-92 (December 2002); Heller,“DNA microarray technology: devices, systems, and applications,” AnnuRev Biomed Eng 4:129-53 (2002); Epub Mar. 22, 2002; Kolchinsky et al.,“Analysis of SNPs and other genomic variations using gel-based chips,”Hum Mutat 19(4):343-60 (April 2002); and McGall et al., “High-densitygenechip oligonucleotide probe arrays,” Adv Biochem Eng Biotechnol77:21-42 (2002).

Any number of probes, such as allele-specific probes, may be implementedin an array, and each probe or pair of probes can hybridize to adifferent SNP position. In the case of polynucleotide probes, they canbe synthesized at designated areas (or synthesized separately and thenaffixed to designated areas) on a substrate using a light-directedchemical process. Each DNA chip can contain, for example, thousands tomillions of individual synthetic polynucleotide probes arranged in agrid-like pattern and miniaturized (e.g., to the size of a dime).Preferably, probes are attached to a solid support in an ordered,addressable array.

A microarray can be composed of a large number of unique,single-stranded polynucleotides, usually either synthetic antisensepolynucleotides or fragments of cDNAs, fixed to a solid support. Typicalpolynucleotides are preferably about 6-60 nucleotides in length, morepreferably about 15-30 nucleotides in length, and most preferably about18-25 nucleotides in length. For certain types of microarrays or otherdetection kits/systems, it may be preferable to use oligonucleotidesthat are only about 7-20 nucleotides in length. In other types ofarrays, such as arrays used in conjunction with chemiluminescentdetection technology, preferred probe lengths can be, for example, about15-80 nucleotides in length, preferably about 50-70 nucleotides inlength, more preferably about 55-65 nucleotides in length, and mostpreferably about 60 nucleotides in length. The microarray or detectionkit can contain polynucleotides that cover the known 5′ or 3′ sequenceof a gene/transcript or target SNP site, sequential polynucleotides thatcover the full-length sequence of a gene/transcript; or uniquepolynucleotides selected from particular areas along the length of atarget gene/transcript sequence, particularly areas corresponding to oneor more SNPs disclosed in Table 1 and/or Table 2. Polynucleotides usedin the microarray or detection kit can be specific to a SNP or SNPs ofinterest (e.g., specific to a particular SNP allele at a target SNPsite, or specific to particular SNP alleles at multiple different SNPsites), or specific to a polymorphic gene/transcript orgenes/transcripts of interest.

Hybridization assays based on polynucleotide arrays rely on thedifferences in hybridization stability of the probes to perfectlymatched and mismatched target sequence variants. For SNP genotyping, itis generally preferable that stringency conditions used in hybridizationassays are high enough such that nucleic acid molecules that differ fromone another at as little as a single SNP position can be differentiated(e.g., typical SNP hybridization assays are designed so thathybridization will occur only if one particular nucleotide is present ata SNP position, but will not occur if an alternative nucleotide ispresent at that SNP position). Such high stringency conditions may bepreferable when using, for example, nucleic acid arrays ofallele-specific probes for SNP detection. Such high stringencyconditions are described in the preceding section, and are well known tothose skilled in the art and can be found in, for example, CurrentProtocols in Molecular Biology 6.3.1-6.3.6, John Wiley & Sons, N.Y.(1989).

In other embodiments, the arrays are used in conjunction withchemiluminescent detection technology. The following patents and patentapplications, which are all hereby incorporated by reference, provideadditional information pertaining to chemiluminescent detection. U.S.patent applications that describe chemiluminescent approaches formicroarray detection: 10/620,332 and 10/620,333. U.S. patents thatdescribe methods and compositions of dioxetane for performingchemiluminescent detection: Nos. 6,124,478; 6,107,024; 5,994,073;5,981,768; 5,871,938; 5,843,681; 5,800,999 and 5,773,628. And the U.S.published application that discloses methods and compositions formicroarray controls: US2002/0110828.

In one embodiment of the invention, a nucleic acid array can comprise anarray of probes of about 15-25 nucleotides in length. In furtherembodiments, a nucleic acid array can comprise any number of probes, inwhich at least one probe is capable of detecting one or more SNPsdisclosed in Table 1 and/or Table 2, and/or at least one probe comprisesa fragment of one of the sequences selected from the group consisting ofthose disclosed in Table 1, Table 2, the Sequence Listing, and sequencescomplementary thereto, said fragment comprising at least about 8consecutive nucleotides, preferably 10, 12, 15, 16, 18, 20, morepreferably 22, 25, 30, 40, 47, 50, 55, 60, 65, 70, 80, 90, 100, or moreconsecutive nucleotides (or any other number in-between) and containing(or being complementary to) a novel SNP allele disclosed in Table 1and/or Table 2. In some embodiments, the nucleotide complementary to theSNP site is within 5, 4, 3, 2, or 1 nucleotide from the center of theprobe, more preferably at the center of said probe.

A polynucleotide probe can be synthesized on the surface of thesubstrate by using a chemical coupling procedure and an ink jetapplication apparatus, as described in PCT application WO95/251116(Baldeschweiler et al.) which is incorporated herein in its entirety byreference. In another aspect, a “gridded” array analogous to a dot (orslot) blot may be used to arrange and link cDNA fragments oroligonucleotides to the surface of a substrate using a vacuum system,thermal, UV, mechanical or chemical bonding procedures. An array, suchas those described above, may be produced by hand or by using availabledevices (slot blot or dot blot apparatus), materials (any suitable solidsupport), and machines (including robotic instruments), and may contain8, 24, 96, 384, 1536, 6144 or more polynucleotides, or any other numberwhich lends itself to the efficient use of commercially availableinstrumentation.

Using such arrays or other kits/systems, the present invention providesmethods of identifying the SNPs disclosed herein in a test sample. Suchmethods typically involve incubating a test sample of nucleic acids withan array comprising one or more probes corresponding to at least one SNPposition of the present invention, and assaying for binding of a nucleicacid from the test sample with one or more of the probes. Conditions forincubating a SNP detection reagent (or a kit/system that employs one ormore such SNP detection reagents) with a test sample vary. Incubationconditions depend on such factors as the format employed in the assay,the detection methods employed, and the type and nature of the detectionreagents used in the assay. One skilled in the art will recognize thatany one of the commonly available hybridization, amplification and arrayassay formats can readily be adapted to detect the SNPs disclosedherein.

A SNP detection kit/system of the present invention may includecomponents that are used to prepare nucleic acids from a test sample forthe subsequent amplification and/or detection of a SNP-containingnucleic acid molecule. Such sample preparation components can be used toproduce nucleic acid extracts (including DNA and/or RNA), proteins ormembrane extracts from any bodily fluids (such as blood, serum, plasma,urine, saliva, phlegm, gastric juices, semen, tears, sweat, etc.), skin,hair, cells (especially nucleated cells) such as buccal cells (e.g., asobtained by buccal swabs), biopsies, or tissue specimens. The testsamples used in the above-described methods will vary based on suchfactors as the assay format, nature of the detection method, and thespecific tissues, cells or extracts used as the test sample to beassayed. Methods of preparing nucleic acids, proteins, and cell extractsare well known in the art and can be readily adapted to obtain a samplethat is compatible with the system utilized. Automated samplepreparation systems for extracting nucleic acids from a test sample arecommercially available, and examples are Qiagen's BioRobot 9600, AppliedBiosystems' PRISM™ 6700 sample preparation system, and Roche MolecularSystems' COBAS AmpliPrep System.

Another form of kit contemplated by the present invention is acompartmentalized kit. A compartmentalized kit includes any kit in whichreagents are contained in separate containers. Such containers include,for example, small glass containers, plastic containers, strips ofplastic, glass or paper, or arraying material such as silica. Suchcontainers allow one to efficiently transfer reagents from onecompartment to another compartment such that the test samples andreagents are not cross-contaminated, or from one container to anothervessel not included in the kit, and the agents or solutions of eachcontainer can be added in a quantitative fashion from one compartment toanother or to another vessel. Such containers may include, for example,one or more containers which will accept the test sample, one or morecontainers which contain at least one probe or other SNP detectionreagent for detecting one or more SNPs of the present invention, one ormore containers which contain wash reagents (such as phosphate bufferedsaline, Tris-buffers, etc.), and one or more containers which containthe reagents used to reveal the presence of the bound probe or other SNPdetection reagents. The kit can optionally further comprise compartmentsand/or reagents for, for example, nucleic acid amplification or otherenzymatic reactions such as primer extension reactions, hybridization,ligation, electrophoresis (preferably capillary electrophoresis), massspectrometry, and/or laser-induced fluorescent detection. The kit mayalso include instructions for using the kit. Exemplary compartmentalizedkits include microfluidic devices known in the art. See, e.g., Weigl etal., “Lab-on-a-chip for drug development,” Adv Drug Deliv Rev55(3):349-77 (February 2003). In such microfluidic devices, thecontainers may be referred to as, for example, microfluidic“compartments,” “chambers,” or “channels.”

Microfluidic devices, which may also be referred to as “lab-on-a-chip”systems, biomedical micro-electro-mechanical systems (bioMEMs), ormulticomponent integrated systems, are exemplary kits/systems of thepresent invention for analyzing SNPs. Such systems miniaturize andcompartmentalize processes such as probe/target hybridization, nucleicacid amplification, and capillary electrophoresis reactions in a singlefunctional device. Such microfluidic devices typically utilize detectionreagents in at least one aspect of the system, and such detectionreagents may be used to detect one or more SNPs of the presentinvention. One example of a microfluidic system is disclosed in U.S.Pat. No. 5,589,136, which describes the integration of PCR amplificationand capillary electrophoresis in chips. Exemplary microfluidic systemscomprise a pattern of microchannels designed onto a glass, silicon,quartz, or plastic wafer included on a microchip. The movements of thesamples may be controlled by electric, electroosmotic or hydrostaticforces applied across different areas of the microchip to createfunctional microscopic valves and pumps with no moving parts. Varyingthe voltage can be used as a means to control the liquid flow atintersections between the micro-machined channels and to change theliquid flow rate for pumping across different sections of the microchip.See, for example, U.S. Pat. Nos. 6,153,073, Dubrow et al., and6,156,181, Parce et al.

For genotyping SNPs, an exemplary microfluidic system may integrate, forexample, nucleic acid amplification, primer extension, capillaryelectrophoresis, and a detection method such as laser inducedfluorescence detection. In a first step of an exemplary process forusing such an exemplary system, nucleic acid samples are amplified,preferably by PCR. Then, the amplification products are subjected toautomated primer extension reactions using ddNTPs (specific fluorescencefor each ddNTP) and the appropriate oligonucleotide primers to carry outprimer extension reactions which hybridize just upstream of the targetedSNP. Once the extension at the 3′ end is completed, the primers areseparated from the unincorporated fluorescent ddNTPs by capillaryelectrophoresis. The separation medium used in capillary electrophoresiscan be, for example, polyacrylamide, polyethyleneglycol or dextran. Theincorporated ddNTPs in the single nucleotide primer extension productsare identified by laser-induced fluorescence detection. Such anexemplary microchip can be used to process, for example, at least 96 to384 samples, or more, in parallel.

Uses of Nucleic Acid Molecules

The nucleic acid molecules of the present invention have a variety ofuses, especially for the diagnosis, prognosis, treatment, and preventionof autoimmune disease (particularly RA), and for predicting drugresponse, particularly response to TNF inhibitors. For example, thenucleic acid molecules of the invention are useful for predicting anindividual's risk for developing autoimmune disease (particularly therisk for RA), for prognosing the progression of autoimmune disease(e.g., the severity or consequences of RA) in an individual, inevaluating the likelihood of an individual who has autoimmune disease(or who is at increased risk for autoimmune disease) of responding totreatment (or prevention) of autoimmune disease with TNF inhibitor,and/or predicting the likelihood that the individual will experiencetoxicity or other undesirable side effects from the TNF inhibitortreatment, etc. For example, the nucleic acid molecules are useful ashybridization probes, such as for genotyping SNPs in messenger RNA,transcript, cDNA, genomic DNA, amplified DNA or other nucleic acidmolecules, and for isolating full-length cDNA and genomic clonesencoding the variant peptides disclosed in Table 1 as well as theirorthologs.

A probe can hybridize to any nucleotide sequence along the entire lengthof a nucleic acid molecule referred to in Table 1 and/or Table 2.Preferably, a probe of the present invention hybridizes to a region of atarget sequence that encompasses a SNP position indicated in Table 1and/or Table 2. More preferably, a probe hybridizes to a SNP-containingtarget sequence in a sequence-specific manner such that it distinguishesthe target sequence from other nucleotide sequences which vary from thetarget sequence only by which nucleotide is present at the SNP site.Such a probe is particularly useful for detecting the presence of aSNP-containing nucleic acid in a test sample, or for determining whichnucleotide (allele) is present at a particular SNP site (i.e.,genotyping the SNP site).

A nucleic acid hybridization probe may be used for determining thepresence, level, form, and/or distribution of nucleic acid expression.The nucleic acid whose level is determined can be DNA or RNA.Accordingly, probes specific for the SNPs described herein can be usedto assess the presence, expression and/or gene copy number in a givencell, tissue, or organism. These uses are relevant for diagnosis ofdisorders involving an increase or decrease in gene expression relativeto normal levels. In vitro techniques for detection of mRNA include, forexample, Northern blot hybridizations and in situ hybridizations. Invitro techniques for detecting DNA include Southern blot hybridizationsand in situ hybridizations. Sambrook and Russell, Molecular Cloning: ALaboratory Manual, Cold Spring Harbor Press, N.Y. (2000).

Probes can be used as part of a diagnostic test kit for identifyingcells or tissues in which a variant protein is expressed, such as bymeasuring the level of a variant protein-encoding nucleic acid (e.g.,mRNA) in a sample of cells from a subject or determining if apolynucleotide contains a SNP of interest.

Thus, the nucleic acid molecules of the invention can be used ashybridization probes to detect the SNPs disclosed herein, therebydetermining whether an individual with the polymorphism(s) is at riskfor developing autoimmune disease (or has already developed early stageautoimmune disease), or the likelihood that an individual will respondpositively to TNF inhibitor treatment (including preventive treatment)of autoimmune disease. Detection of a SNP associated with a diseasephenotype provides a diagnostic tool for an active disease and/orgenetic predisposition to the disease.

Furthermore, the nucleic acid molecules of the invention are thereforeuseful for detecting a gene (gene information is disclosed in Table 2,for example) which contains a SNP disclosed herein and/or products ofsuch genes, such as expressed mRNA transcript molecules (transcriptinformation is disclosed in Table 1, for example), and are thus usefulfor detecting gene expression. The nucleic acid molecules can optionallybe implemented in, for example, an array or kit format for use indetecting gene expression.

The nucleic acid molecules of the invention are also useful as primersto amplify any given region of a nucleic acid molecule, particularly aregion containing a SNP identified in Table 1 and/or Table 2.

The nucleic acid molecules of the invention are also useful forconstructing recombinant vectors (described in greater detail below).Such vectors include expression vectors that express a portion of, orall of, any of the variant peptide sequences referred to in Table 1.Vectors also include insertion vectors, used to integrate into anothernucleic acid molecule sequence, such as into the cellular genome, toalter in situ expression of a gene and/or gene product. For example, anendogenous coding sequence can be replaced via homologous recombinationwith all or part of the coding region containing one or morespecifically introduced SNPs.

The nucleic acid molecules of the invention are also useful forexpressing antigenic portions of the variant proteins, particularlyantigenic portions that contain a variant amino acid sequence (e.g., anamino acid substitution) caused by a SNP disclosed in Table 1 and/orTable 2.

The nucleic acid molecules of the invention are also useful forconstructing vectors containing a gene regulatory region of the nucleicacid molecules of the present invention.

The nucleic acid molecules of the invention are also useful fordesigning ribozymes corresponding to all, or a part, of an mRNA moleculeexpressed from a SNP-containing nucleic acid molecule described herein.

The nucleic acid molecules of the invention are also useful forconstructing host cells expressing a part, or all, of the nucleic acidmolecules and variant peptides.

The nucleic acid molecules of the invention are also useful forconstructing transgenic animals expressing all, or a part, of thenucleic acid molecules and variant peptides. The production ofrecombinant cells and transgenic animals having nucleic acid moleculeswhich contain the SNPs disclosed in Table 1 and/or Table 2 allows, forexample, effective clinical design of treatment compounds and dosageregimens.

The nucleic acid molecules of the invention are also useful in assaysfor drug screening to identify compounds that, for example, modulatenucleic acid expression.

The nucleic acid molecules of the invention are also useful in genetherapy in patients whose cells have aberrant gene expression. Thus,recombinant cells, which include a patient's cells that have beenengineered ex vivo and returned to the patient, can be introduced intoan individual where the recombinant cells produce the desired protein totreat the individual.

SNP Genotyping Methods

The process of determining which nucleotide(s) is/are present at each ofone or more SNP positions (such as a SNP position disclosed in Table 1and/or Table 2), for either or both alleles, may be referred to by suchphrases as SNP genotyping, determining the “identity” of a SNP,determining the “content” of a SNP, or determining whichnucleotide(s)/allele(s) is/are present at a SNP position. Thus, theseterms can refer to detecting a single allele (nucleotide) at a SNPposition or can encompass detecting both alleles (nucleotides) at a SNPposition (such as to determine the homozygous or heterozygous state of aSNP position). Furthermore, these terms may also refer to detecting anamino acid residue encoded by a SNP (such as alternative amino acidresidues that are encoded by different codons created by alternativenucleotides at a missense SNP position, for example).

The present invention provides methods of SNP genotyping, such as foruse in evaluating an individual's risk for developing autoimmune disease(particularly RA), for evaluating an individual's prognosis for diseaseseverity and recovery, for predicting the likelihood that an individualwho has previously had autoimmune disease (such as RA) will have arecurrence of autoimmune disease again in the future, for implementing apreventive or treatment regimen for an individual based on thatindividual having an increased susceptibility for developing autoimmunedisease (e.g., increased risk for RA), in evaluating an individual'slikelihood of responding to TNF inhibitor treatment (particularly fortreating or preventing autoimmune disease), in selecting a treatment orpreventive regimen (e.g., in deciding whether or not to administer TNFinhibitor treatment to an individual having autoimmune disease, or whois at increased risk for developing autoimmune disease in the future),or in formulating or selecting a particular TNF inhibitor-basedtreatment or preventive regimen such as dosage and/or frequency ofadministration of TNF inhibitor treatment or choosing which form/type ofTNF inhibitor to be administered, such as a particular pharmaceuticalcomposition or antibody, fusion protein, small molecule compound,nucleic acid agent, etc.), determining the likelihood of experiencingtoxicity or other undesirable side effects from TNF inhibitor treatment,or selecting individuals for a clinical trial of a TNF inhibitor (e.g.,selecting individuals to participate in the trial who are most likely torespond positively from the TNF inhibitor treatment and/or excludingindividuals from the trial who are unlikely to respond positively fromthe TNF inhibitor treatment based on their SNP genotype(s), or selectingindividuals who are unlikely to respond positively to TNF inhibitorsbased on their SNP genotype(s) to participate in a clinical trial ofanother type of drug that may benefit them), etc.

Nucleic acid samples can be genotyped to determine which allele(s)is/are present at any given genetic region (e.g., SNP position) ofinterest by methods well known in the art. The neighboring sequence canbe used to design SNP detection reagents such as oligonucleotide probes,which may optionally be implemented in a kit format. Exemplary SNPgenotyping methods are described in Chen et al., “Single nucleotidepolymorphism genotyping: biochemistry, protocol, cost and throughput,”Pharmacogenomics J 3(2):77-96 (2003); Kwok et al., “Detection of singlenucleotide polymorphisms,” Curr Issues Mol Biol 5(2):43-60 (April 2003);Shi, “Technologies for individual genotyping: detection of geneticpolymorphisms in drug targets and disease genes,” Am J Pharmacogenomics2(3):197-205 (2002); and Kwok, “Methods for genotyping single nucleotidepolymorphisms,” Annu Rev Genomics Hum Genet. 2:235-58 (2001). Exemplarytechniques for high-throughput SNP genotyping are described inMarnellos, “High-throughput SNP analysis for genetic associationstudies,” Curr Opin Drug Discov Devel 6(3):317-21 (May 2003). Common SNPgenotyping methods include, but are not limited to, TaqMan assays,molecular beacon assays, nucleic acid arrays, allele-specific primerextension, allele-specific PCR, arrayed primer extension, homogeneousprimer extension assays, primer extension with detection by massspectrometry, pyrosequencing, multiplex primer extension sorted ongenetic arrays, ligation with rolling circle amplification, homogeneousligation, OLA (U.S. Pat. No. 4,988,167), multiplex ligation reactionsorted on genetic arrays, restriction-fragment length polymorphism,single base extension-tag assays, and the Invader assay. Such methodsmay be used in combination with detection mechanisms such as, forexample, luminescence or chemiluminescence detection, fluorescencedetection, time-resolved fluorescence detection, fluorescence resonanceenergy transfer, fluorescence polarization, mass spectrometry, andelectrical detection.

Various methods for detecting polymorphisms include, but are not limitedto, methods in which protection from cleavage agents is used to detectmismatched bases in RNA/RNA or RNA/DNA duplexes (Myers et al., Science230:1242 (1985); Cotton et al., PNAS 85:4397 (1988); and Saleeba et al.,Meth. Enzymol 217:286-295 (1992)), comparison of the electrophoreticmobility of variant and wild type nucleic acid molecules (Orita et al.,PNAS 86:2766 (1989); Cotton et al., Mutat Res 285:125-144 (1993); andHayashi et al., Genet Anal Tech Appl 9:73-79 (1992)), and assaying themovement of polymorphic or wild-type fragments in polyacrylamide gelscontaining a gradient of denaturant using denaturing gradient gelelectrophoresis (DGGE) (Myers et al., Nature 313:495 (1985)). Sequencevariations at specific locations can also be assessed by nucleaseprotection assays such as RNase and S1 protection or chemical cleavagemethods.

In a preferred embodiment, SNP genotyping is performed using the TaqManassay, which is also known as the 5′ nuclease assay (U.S. Pat. Nos.5,210,015 and 5,538,848). The TaqMan assay detects the accumulation of aspecific amplified product during PCR. The TaqMan assay utilizes anoligonucleotide probe labeled with a fluorescent reporter dye and aquencher dye. The reporter dye is excited by irradiation at anappropriate wavelength, it transfers energy to the quencher dye in thesame probe via a process called fluorescence resonance energy transfer(FRET). When attached to the probe, the excited reporter dye does notemit a signal. The proximity of the quencher dye to the reporter dye inthe intact probe maintains a reduced fluorescence for the reporter. Thereporter dye and quencher dye may be at the 5′ most and the 3′ mostends, respectively, or vice versa. Alternatively, the reporter dye maybe at the 5′ or 3′ most end while the quencher dye is attached to aninternal nucleotide, or vice versa. In yet another embodiment, both thereporter and the quencher may be attached to internal nucleotides at adistance from each other such that fluorescence of the reporter isreduced.

During PCR, the 5′ nuclease activity of DNA polymerase cleaves theprobe, thereby separating the reporter dye and the quencher dye andresulting in increased fluorescence of the reporter. Accumulation of PCRproduct is detected directly by monitoring the increase in fluorescenceof the reporter dye. The DNA polymerase cleaves the probe between thereporter dye and the quencher dye only if the probe hybridizes to thetarget SNP-containing template which is amplified during PCR, and theprobe is designed to hybridize to the target SNP site only if aparticular SNP allele is present.

Preferred TaqMan primer and probe sequences can readily be determinedusing the SNP and associated nucleic acid sequence information providedherein. A number of computer programs, such as Primer Express (AppliedBiosystems, Foster City, Calif.), can be used to rapidly obtain optimalprimer/probe sets. It will be apparent to one of skill in the art thatsuch primers and probes for detecting the SNPs of the present inventionare useful in, for example, screening for individuals who aresusceptible to developing autoimmune disease (particularly RA) andrelated pathologies, or in screening individuals who have autoimmunedisease (or who are susceptible to autoimmune disease) for theirlikelihood of responding to TNF inhibitor treatment. These probes andprimers can be readily incorporated into a kit format. The presentinvention also includes modifications of the Taqman assay well known inthe art such as the use of Molecular Beacon probes (U.S. Pat. Nos.5,118,801 and 5,312,728) and other variant formats (U.S. Pat. Nos.5,866,336 and 6,117,635).

Another preferred method for genotyping the SNPs of the presentinvention is the use of two oligonucleotide probes in an OLA (see, e.g.,U.S. Pat. No. 4,988,617). In this method, one probe hybridizes to asegment of a target nucleic acid with its 3′ most end aligned with theSNP site. A second probe hybridizes to an adjacent segment of the targetnucleic acid molecule directly 3′ to the first probe. The two juxtaposedprobes hybridize to the target nucleic acid molecule, and are ligated inthe presence of a linking agent such as a ligase if there is perfectcomplementarity between the 3′ most nucleotide of the first probe withthe SNP site. If there is a mismatch, ligation would not occur. Afterthe reaction, the ligated probes are separated from the target nucleicacid molecule, and detected as indicators of the presence of a SNP.

The following patents, patent applications, and published internationalpatent applications, which are all hereby incorporated by reference,provide additional information pertaining to techniques for carrying outvarious types of OLA. The following U.S. patents describe OLA strategiesfor performing SNP detection: Nos. 6,027,889; 6,268,148; 5,494,810;5,830,711 and 6,054,564. WO 97/31256 and WO 00/56927 describe OLAstrategies for performing SNP detection using universal arrays, whereina zipcode sequence can be introduced into one of the hybridizationprobes, and the resulting product, or amplified product, hybridized to auniversal zip code array. U.S. application US01/17329 (and 09/584,905)describes OLA (or LDR) followed by PCR, wherein zipcodes areincorporated into OLA probes, and amplified PCR products are determinedby electrophoretic or universal zipcode array readout. U.S. applications60/427,818, 60/445,636, and 60/445,494 describe SNPlex methods andsoftware for multiplexed SNP detection using OLA followed by PCR,wherein zipcodes are incorporated into OLA probes, and amplified PCRproducts are hybridized with a zipchute reagent, and the identity of theSNP determined from electrophoretic readout of the zipchute. In someembodiments, OLA is carried out prior to PCR (or another method ofnucleic acid amplification). In other embodiments, PCR (or anothermethod of nucleic acid amplification) is carried out prior to OLA.

Another method for SNP genotyping is based on mass spectrometry. Massspectrometry takes advantage of the unique mass of each of the fournucleotides of DNA. SNPs can be unambiguously genotyped by massspectrometry by measuring the differences in the mass of nucleic acidshaving alternative SNP alleles. MALDI-TOF (Matrix Assisted LaserDesorption Ionization-Time of Flight) mass spectrometry technology ispreferred for extremely precise determinations of molecular mass, suchas SNPs. Numerous approaches to SNP analysis have been developed basedon mass spectrometry. Preferred mass spectrometry-based methods of SNPgenotyping include primer extension assays, which can also be utilizedin combination with other approaches, such as traditional gel-basedformats and microarrays.

Typically, the primer extension assay involves designing and annealing aprimer to a template PCR amplicon upstream (5′) from a target SNPposition. A mix of dideoxynucleotide triphosphates (ddNTPs) and/ordeoxynucleotide triphosphates (dNTPs) are added to a reaction mixturecontaining template (e.g., a SNP-containing nucleic acid molecule whichhas typically been amplified, such as by PCR), primer, and DNApolymerase. Extension of the primer terminates at the first position inthe template where a nucleotide complementary to one of the ddNTPs inthe mix occurs. The primer can be either immediately adjacent (i.e., thenucleotide at the 3′ end of the primer hybridizes to the nucleotide nextto the target SNP site) or two or more nucleotides removed from the SNPposition. If the primer is several nucleotides removed from the targetSNP position, the only limitation is that the template sequence betweenthe 3′ end of the primer and the SNP position cannot contain anucleotide of the same type as the one to be detected, or this willcause premature termination of the extension primer. Alternatively, ifall four ddNTPs alone, with no dNTPs, are added to the reaction mixture,the primer will always be extended by only one nucleotide, correspondingto the target SNP position. In this instance, primers are designed tobind one nucleotide upstream from the SNP position (i.e., the nucleotideat the 3′ end of the primer hybridizes to the nucleotide that isimmediately adjacent to the target SNP site on the 5′ side of the targetSNP site). Extension by only one nucleotide is preferable, as itminimizes the overall mass of the extended primer, thereby increasingthe resolution of mass differences between alternative SNP nucleotides.Furthermore, mass-tagged ddNTPs can be employed in the primer extensionreactions in place of unmodified ddNTPs. This increases the massdifference between primers extended with these ddNTPs, thereby providingincreased sensitivity and accuracy, and is particularly useful fortyping heterozygous base positions. Mass-tagging also alleviates theneed for intensive sample-preparation procedures and decreases thenecessary resolving power of the mass spectrometer.

The extended primers can then be purified and analyzed by MALDI-TOF massspectrometry to determine the identity of the nucleotide present at thetarget SNP position. In one method of analysis, the products from theprimer extension reaction are combined with light absorbing crystalsthat form a matrix. The matrix is then hit with an energy source such asa laser to ionize and desorb the nucleic acid molecules into thegas-phase. The ionized molecules are then ejected into a flight tube andaccelerated down the tube towards a detector. The time between theionization event, such as a laser pulse, and collision of the moleculewith the detector is the time of flight of that molecule. The time offlight is precisely correlated with the mass-to-charge ratio (m/z) ofthe ionized molecule. Ions with smaller m/z travel down the tube fasterthan ions with larger m/z and therefore the lighter ions reach thedetector before the heavier ions. The time-of-flight is then convertedinto a corresponding, and highly precise, m/z. In this manner, SNPs canbe identified based on the slight differences in mass, and thecorresponding time of flight differences, inherent in nucleic acidmolecules having different nucleotides at a single base position. Forfurther information regarding the use of primer extension assays inconjunction with MALDI-TOF mass spectrometry for SNP genotyping, see,e.g., Wise et al., “A standard protocol for single nucleotide primerextension in the human genome using matrix-assisted laserdesorption/ionization time-of-flight mass spectrometry,” Rapid CommunMass Spectrom 17(11):1195-202 (2003).

The following references provide further information describing massspectrometry-based methods for SNP genotyping: Bocker, “SNP and mutationdiscovery using base-specific cleavage and MALDI-TOF mass spectrometry,”Bioinformatics 19 Suppl 1:144-153 (July 2003); Storm et al., “MALDI-TOFmass spectrometry-based SNP genotyping,” Methods Mol Biol 212:241-62(2003); Jurinke et al., “The use of Mass ARRAY technology for highthroughput genotyping,” Adv Biochem Eng Biotechnol 77:57-74 (2002); andJurinke et al., “Automated genotyping using the DNA MassArraytechnology,” Methods Mol Biol 187:179-92 (2002).

SNPs can also be scored by direct DNA sequencing. A variety of automatedsequencing procedures can be utilized (e.g. Biotechniques 19:448(1995)), including sequencing by mass spectrometry. See, e.g., PCTInternational Publication No. WO 94/16101; Cohen et al., Adv Chromatogr36:127-162 (1996); and Griffin et al., Appl Biochem Biotechnol38:147-159 (1993). The nucleic acid sequences of the present inventionenable one of ordinary skill in the art to readily design sequencingprimers for such automated sequencing procedures. Commercialinstrumentation, such as the Applied Biosystems 377, 3100, 3700, 3730,and 3730×1 DNA Analyzers (Foster City, Calif.), is commonly used in theart for automated sequencing.

Other methods that can be used to genotype the SNPs of the presentinvention include single-strand conformational polymorphism (SSCP), anddenaturing gradient gel electrophoresis (DGGE). Myers et al., Nature313:495 (1985). SSCP identifies base differences by alteration inelectrophoretic migration of single stranded PCR products, as describedin Orita et al., Proc. Nat. Acad. Single-stranded PCR products can begenerated by heating or otherwise denaturing double stranded PCRproducts. Single-stranded nucleic acids may refold or form secondarystructures that are partially dependent on the base sequence. Thedifferent electrophoretic mobilities of single-stranded amplificationproducts are related to base-sequence differences at SNP positions. DGGEdifferentiates SNP alleles based on the different sequence-dependentstabilities and melting properties inherent in polymorphic DNA and thecorresponding differences in electrophoretic migration patterns in adenaturing gradient gel. PCR Technology: Principles and Applications forDNA Amplification Chapter 7, Erlich, ed., W.H. Freeman and Co, N.Y.(1992).

Sequence-specific ribozymes (U.S. Pat. No. 5,498,531) can also be usedto score SNPs based on the development or loss of a ribozyme cleavagesite. Perfectly matched sequences can be distinguished from mismatchedsequences by nuclease cleavage digestion assays or by differences inmelting temperature. If the SNP affects a restriction enzyme cleavagesite, the SNP can be identified by alterations in restriction enzymedigestion patterns, and the corresponding changes in nucleic acidfragment lengths determined by gel electrophoresis.

SNP genotyping can include the steps of, for example, collecting abiological sample from a human subject (e.g., sample of tissues, cells,fluids, secretions, etc.), isolating nucleic acids (e.g., genomic DNA,mRNA or both) from the cells of the sample, contacting the nucleic acidswith one or more primers which specifically hybridize to a region of theisolated nucleic acid containing a target SNP under conditions such thathybridization and amplification of the target nucleic acid regionoccurs, and determining the nucleotide present at the SNP position ofinterest, or, in some assays, detecting the presence or absence of anamplification product (assays can be designed so that hybridizationand/or amplification will only occur if a particular SNP allele ispresent or absent). In some assays, the size of the amplificationproduct is detected and compared to the length of a control sample; forexample, deletions and insertions can be detected by a change in size ofthe amplified product compared to a normal genotype.

SNP genotyping is useful for numerous practical applications, asdescribed below. Examples of such applications include, but are notlimited to, SNP-disease association analysis, disease predispositionscreening, disease diagnosis, disease prognosis, disease progressionmonitoring, determining therapeutic strategies based on an individual'sgenotype (“pharmacogenomics”), developing therapeutic agents based onSNP genotypes associated with a disease or likelihood of responding to adrug, stratifying patient populations for clinical trials of atherapeutic, preventive, or diagnostic agent, predicting the likelihoodthat an individual will experience toxic side effects from a therapeuticagent, and human identification applications such as forensics.

Analysis of Genetic Associations between SNPs and Phenotypic Traits

SNP genotyping for disease diagnosis, disease predisposition screening,disease prognosis, determining drug responsiveness (pharmacogenomics),drug toxicity screening, and other uses described herein, typicallyrelies on initially establishing a genetic association between one ormore specific SNPs and the particular phenotypic traits of interest.

Different study designs may be used for genetic association studies.Modern Epidemiology 609-622, Lippincott, Williams & Wilkins (1998).Observational studies are most frequently carried out in which theresponse of the patients is not interfered with. The first type ofobservational study identifies a sample of persons in whom the suspectedcause of the disease is present and another sample of persons in whomthe suspected cause is absent, and then the frequency of development ofdisease in the two samples is compared. These sampled populations arecalled cohorts, and the study is a prospective study. The other type ofobservational study is case-control or a retrospective study. In typicalcase-control studies, samples are collected from individuals with thephenotype of interest (cases) such as certain manifestations of adisease, and from individuals without the phenotype (controls) in apopulation (target population) that conclusions are to be drawn from.Then the possible causes of the disease are investigatedretrospectively. As the time and costs of collecting samples incase-control studies are considerably less than those for prospectivestudies, case-control studies are the more commonly used study design ingenetic association studies, at least during the exploration anddiscovery stage.

In both types of observational studies, there may be potentialconfounding factors that should be taken into consideration. Confoundingfactors are those that are associated with both the real cause(s) of thedisease and the disease itself, and they include demographic informationsuch as age, gender, ethnicity as well as environmental factors. Whenconfounding factors are not matched in cases and controls in a study,and are not controlled properly, spurious association results can arise.If potential confounding factors are identified, they should becontrolled for by analysis methods explained below.

In a genetic association study, the cause of interest to be tested is acertain allele or a SNP or a combination of alleles or a haplotype fromseveral SNPs. Thus, tissue specimens (e.g., whole blood) from thesampled individuals may be collected and genomic DNA genotyped for theSNP(s) of interest. In addition to the phenotypic trait of interest,other information such as demographic (e.g., age, gender, ethnicity,etc.), clinical, and environmental information that may influence theoutcome of the trait can be collected to further characterize and definethe sample set. In many cases, these factors are known to be associatedwith diseases and/or SNP allele frequencies. There are likelygene-environment and/or gene-gene interactions as well. Analysis methodsto address gene-environment and gene-gene interactions (for example, theeffects of the presence of both susceptibility alleles at two differentgenes can be greater than the effects of the individual alleles at twogenes combined) are discussed below.

After all the relevant phenotypic and genotypic information has beenobtained, statistical analyses are carried out to determine if there isany significant correlation between the presence of an allele or agenotype with the phenotypic characteristics of an individual.Preferably, data inspection and cleaning are first performed beforecarrying out statistical tests for genetic association. Epidemiologicaland clinical data of the samples can be summarized by descriptivestatistics with tables and graphs. Data validation is preferablyperformed to check for data completion, inconsistent entries, andoutliers. Chi-squared tests and t-tests (Wilcoxon rank-sum tests ifdistributions are not normal) may then be used to check for significantdifferences between cases and controls for discrete and continuousvariables, respectively. To ensure genotyping quality, Hardy-Weinbergdisequilibrium tests can be performed on cases and controls separately.Significant deviation from Hardy-Weinberg equilibrium (HWE) in bothcases and controls for individual markers can be indicative ofgenotyping errors. If HWE is violated in a majority of markers, it isindicative of population substructure that should be furtherinvestigated. Moreover, Hardy-Weinberg disequilibrium in cases only canindicate genetic association of the markers with the disease. B. Weir,Genetic Data Analysis, Sinauer (1990).

To test whether an allele of a single SNP is associated with the case orcontrol status of a phenotypic trait, one skilled in the art can compareallele frequencies in cases and controls. Standard chi-squared tests andFisher exact tests can be carried out on a 2×2 table (2 SNP alleles×2outcomes in the categorical trait of interest). To test whethergenotypes of a SNP are associated, chi-squared tests can be carried outon a 3×2 table (3 genotypes×2 outcomes). Score tests are also carriedout for genotypic association to contrast the three genotypicfrequencies (major homozygotes, heterozygotes and minor homozygotes) incases and controls, and to look for trends using 3 different modes ofinheritance, namely dominant (with contrast coefficients 2, −1, −1),additive or allelic (with contrast coefficients 1, 0, −1) and recessive(with contrast coefficients 1, 1, −2). Odds ratios for minor versusmajor alleles, and odds ratios for heterozygote and homozygote variantsversus the wild type genotypes are calculated with the desiredconfidence limits, usually 95%.

In order to control for confounders and to test for interaction andeffect modifiers, stratified analyses may be performed using stratifiedfactors that are likely to be confounding, including demographicinformation such as age, ethnicity, and gender, or an interactingelement or effect modifier, such as a known major gene (e.g., APOE forAlzheimer's disease or HLA genes for autoimmune diseases), orenvironmental factors such as smoking in lung cancer. Stratifiedassociation tests may be carried out using Cochran-Mantel-Haenszel teststhat take into account the ordinal nature of genotypes with 0, 1, and 2variant alleles. Exact tests by StatXact may also be performed whencomputationally possible. Another way to adjust for confounding effectsand test for interactions is to perform stepwise multiple logisticregression analysis using statistical packages such as SAS or R.Logistic regression is a model-building technique in which the bestfitting and most parsimonious model is built to describe the relationbetween the dichotomous outcome (for instance, getting a certain diseaseor not) and a set of independent variables (for instance, genotypes ofdifferent associated genes, and the associated demographic andenvironmental factors). The most common model is one in which the logittransformation of the odds ratios is expressed as a linear combinationof the variables (main effects) and their cross-product terms(interactions). Hosmer and Lemeshow, Applied Logistic Regression, Wiley(2000). To test whether a certain variable or interaction issignificantly associated with the outcome, coefficients in the model arefirst estimated and then tested for statistical significance of theirdeparture from zero.

In addition to performing association tests one marker at a time,haplotype association analysis may also be performed to study a numberof markers that are closely linked together. Haplotype association testscan have better power than genotypic or allelic association tests whenthe tested markers are not the disease-causing mutations themselves butare in linkage disequilibrium with such mutations. The test will even bemore powerful if the disease is indeed caused by a combination ofalleles on a haplotype (e.g., APOE is a haplotype formed by 2 SNPs thatare very close to each other). In order to perform haplotype associationeffectively, marker-marker linkage disequilibrium measures, both D′ andr², are typically calculated for the markers within a gene to elucidatethe haplotype structure. Recent studies in linkage disequilibriumindicate that SNPs within a gene are organized in block pattern, and ahigh degree of linkage disequilibrium exists within blocks and verylittle linkage disequilibrium exists between blocks. Daly et al, NatureGenetics 29:232-235 (2001). Haplotype association with the diseasestatus can be performed using such blocks once they have beenelucidated.

Haplotype association tests can be carried out in a similar fashion asthe allelic and genotypic association tests. Each haplotype in a gene isanalogous to an allele in a multi-allelic marker. One skilled in the artcan either compare the haplotype frequencies in cases and controls ortest genetic association with different pairs of haplotypes. It has beenproposed that score tests can be done on haplotypes using the program“haplo.score.” Schaid et al, Am J Hum Genet. 70:425-434 (2002). In thatmethod, haplotypes are first inferred by EM algorithm and score testsare carried out with a generalized linear model (GLM) framework thatallows the adjustment of other factors.

An important decision in the performance of genetic association tests isthe determination of the significance level at which significantassociation can be declared when the P value of the tests reaches thatlevel. In an exploratory analysis where positive hits will be followedup in subsequent confirmatory testing, an unadjusted P value <0.2 (asignificance level on the lenient side), for example, may be used forgenerating hypotheses for significant association of a SNP with certainphenotypic characteristics of a disease. It is preferred that a p-value<0.05 (a significance level traditionally used in the art) is achievedin order for a SNP to be considered to have an association with adisease. It is more preferred that a p-value <0.01 (a significance levelon the stringent side) is achieved for an association to be declared.When hits are followed up in confirmatory analyses in more samples ofthe same source or in different samples from different sources,adjustment for multiple testing will be performed as to avoid excessnumber of hits while maintaining the experiment-wide error rates at0.05. While there are different methods to adjust for multiple testingto control for different kinds of error rates, a commonly used butrather conservative method is Bonferroni correction to control theexperiment-wise or family-wise error rate. Westfall et al., Multiplecomparisons and multiple tests, SAS Institute (1999). Permutation teststo control for the false discovery rates, FDR, can be more powerful.Benjamini and Hochberg, Journal of the Royal Statistical Society, SeriesB 57:1289-1300 (1995); Westfall and Young, Resampling-based MultipleTesting, Wiley (1993). Such methods to control for multiplicity would bepreferred when the tests are dependent and controlling for falsediscovery rates is sufficient as opposed to controlling for theexperiment-wise error rates.

In replication studies using samples from different populations afterstatistically significant markers have been identified in theexploratory stage, meta-analyses can then be performed by combiningevidence of different studies. Modern Epidemiology 643-673, Lippincott,Williams & Wilkins (1998). If available, association results known inthe art for the same SNPs can be included in the meta-analyses.

Since both genotyping and disease status classification can involveerrors, sensitivity analyses may be performed to see how odds ratios andp-values would change upon various estimates on genotyping and diseaseclassification error rates.

It has been well known that subpopulation-based sampling bias betweencases and controls can lead to spurious results in case-controlassociation studies when prevalence of the disease is associated withdifferent subpopulation groups. Ewens and Spielman, Am J Hum Genet.62:450-458 (1995). Such bias can also lead to a loss of statisticalpower in genetic association studies. To detect populationstratification, Pritchard and Rosenberg suggested typing markers thatare unlinked to the disease and using results of association tests onthose markers to determine whether there is any populationstratification. Pritchard et al., Am J Hum Gen 65:220-228 (1999). Whenstratification is detected, the genomic control (GC) method as proposedby Devlin and Roeder can be used to adjust for the inflation of teststatistics due to population stratification. Devlin et al., Biometrics55:997-1004 (1999). The GC method is robust to changes in populationstructure levels as well as being applicable to DNA pooling designs.Devlin et al., Genet Epidem 21:273-284 (2001).

While Pritchard's method recommended using 15-20 unlinked microsatellitemarkers, it suggested using more than 30 biallelic markers to get enoughpower to detect population stratification. For the GC method, it hasbeen shown that about 60-70 biallelic markers are sufficient to estimatethe inflation factor for the test statistics due to populationstratification. Bacanu et al., Am J Hum Genet. 66:1933-1944 (2000).Hence, 70 intergenic SNPs can be chosen in unlinked regions as indicatedin a genome scan. Kehoe et al., Hum Mol Genet. 8:237-245 (1999).

Once individual risk factors, genetic or non-genetic, have been foundfor the predisposition to disease, the next step is to set up aclassification/prediction scheme to predict the category (for instance,disease or no-disease) that an individual will be in depending on hisgenotypes of associated SNPs and other non-genetic risk factors.Logistic regression for discrete trait and linear regression forcontinuous trait are standard techniques for such tasks. Draper andSmith, Applied Regression Analysis, Wiley (1998). Moreover, othertechniques can also be used for setting up classification. Suchtechniques include, but are not limited to, MART, CART, neural network,and discriminant analyses that are suitable for use in comparing theperformance of different methods. The Elements of Statistical Learning,Hastie, Tibshirani & Friedman, Springer (2002).

Disease Diagnosis and Predisposition Screening

Information on association/correlation between genotypes anddisease-related phenotypes can be exploited in several ways. Forexample, in the case of a highly statistically significant associationbetween one or more SNPs with predisposition to a disease for whichtreatment is available, detection of such a genotype pattern in anindividual may justify immediate administration of treatment, or atleast the institution of regular monitoring of the individual. Detectionof the susceptibility alleles associated with serious disease in acouple contemplating having children may also be valuable to the couplein their reproductive decisions. In the case of a weaker but stillstatistically significant association between a SNP and a human disease,immediate therapeutic intervention or monitoring may not be justifiedafter detecting the susceptibility allele or SNP. Nevertheless, thesubject can be motivated to begin simple life-style changes (e.g., diet,exercise) that can be accomplished at little or no cost to theindividual but would confer potential benefits in reducing the risk ofdeveloping conditions for which that individual may have an increasedrisk by virtue of having the risk allele(s).

The SNPs of the invention may contribute to the development ofautoimmune disease (e.g., RA), or to responsiveness of an individual toTNF inhibitor treatment, in different ways. Some polymorphisms occurwithin a protein coding sequence and contribute to disease phenotype byaffecting protein structure. Other polymorphisms occur in noncodingregions but may exert phenotypic effects indirectly via influence on,for example, replication, transcription, and/or translation. A singleSNP may affect more than one phenotypic trait. Likewise, a singlephenotypic trait may be affected by multiple SNPs in different genes.

As used herein, the terms “diagnose,” “diagnosis,” and “diagnostics”include, but are not limited to, any of the following: detection ofautoimmune disease (such as RA) that an individual may presently have,predisposition/susceptibility/predictive screening (i.e., determiningwhether an individual has an increased or decreased risk of developingautoimmune disease in the future), prognosing the future course ofautoimmune disease or recurrence of autoimmune disease in an individual,determining a particular type or subclass of autoimmune disease in anindividual who currently or previously had autoimmune disease,confirming or reinforcing a previously made diagnosis of autoimmunedisease, evaluating an individual's likelihood of responding positivelyto a particular treatment or therapeutic agent such as TNF inhibitortreatment (particularly treatment or prevention of autoimmune diseaseusing TNF inhibitors), determining or selecting a therapeutic orpreventive strategy that an individual is most likely to positivelyrespond to (e.g., selecting a particular therapeutic agent such as a TNFinhibitor, or combination of therapeutic agents, or determining a dosingregimen, etc.), classifying (or confirming/reinforcing) an individual asa responder/non-responder (or determining a particular subtype ofresponder/non-responder) with respect to the individual's response to adrug treatment such as TNF inhibitor treatment, and predicting whether apatient is likely to experience toxic effects from a particulartreatment or therapeutic compound. Such diagnostic uses can be based onthe SNPs individually or in a unique combination or SNP haplotypes ofthe present invention.

Haplotypes are particularly useful in that, for example, fewer SNPs canbe genotyped to determine if a particular genomic region harbors a locusthat influences a particular phenotype, such as in linkagedisequilibrium-based SNP association analysis.

Linkage disequilibrium (LD) refers to the co-inheritance of alleles(e.g., alternative nucleotides) at two or more different SNP sites atfrequencies greater than would be expected from the separate frequenciesof occurrence of each allele in a given population. The expectedfrequency of co-occurrence of two alleles that are inheritedindependently is the frequency of the first allele multiplied by thefrequency of the second allele. Alleles that co-occur at expectedfrequencies are said to be in “linkage equilibrium.” In contrast, LDrefers to any non-random genetic association between allele(s) at two ormore different SNP sites, which is generally due to the physicalproximity of the two loci along a chromosome. LD can occur when two ormore SNPs sites are in close physical proximity to each other on a givenchromosome and therefore alleles at these SNP sites will tend to remainunseparated for multiple generations with the consequence that aparticular nucleotide (allele) at one SNP site will show a non-randomassociation with a particular nucleotide (allele) at a different SNPsite located nearby. Hence, genotyping one of the SNP sites will givealmost the same information as genotyping the other SNP site that is inLD.

Various degrees of LD can be encountered between two or more SNPs withthe result being that some SNPs are more closely associated (i.e., instronger LD) than others. Furthermore, the physical distance over whichLD extends along a chromosome differs between different regions of thegenome, and therefore the degree of physical separation between two ormore SNP sites necessary for LD to occur can differ between differentregions of the genome.

For diagnostic purposes and similar uses, if a particular SNP site isfound to be useful for, for example, predicting an individual'ssusceptibility to autoimmune disease or an individual's response to TNFinhibitor treatment, then the skilled artisan would recognize that otherSNP sites which are in LD with this SNP site would also be useful forthe same purposes. Thus, polymorphisms (e.g., SNPs and/or haplotypes)that are not the actual disease-causing (causative) polymorphisms, butare in LD with such causative polymorphisms, are also useful. In suchinstances, the genotype of the polymorphism(s) that is/are in LD withthe causative polymorphism is predictive of the genotype of thecausative polymorphism and, consequently, predictive of the phenotype(e.g., autoimmune disease, or responder/non-responder to a drugtreatment) that is influenced by the causative SNP(s). Therefore,polymorphic markers that are in LD with causative polymorphisms areuseful as diagnostic markers, and are particularly useful when theactual causative polymorphism(s) is/are unknown.

Examples of polymorphisms that can be in LD with one or more causativepolymorphisms (and/or in LD with one or more polymorphisms that have asignificant statistical association with a condition) and thereforeuseful for diagnosing the same condition that the causative/associatedSNP(s) is used to diagnose, include other SNPs in the same gene,protein-coding, or mRNA transcript-coding region as thecausative/associated SNP, other SNPs in the same exon or same intron asthe causative/associated SNP, other SNPs in the same haplotype block asthe causative/associated SNP, other SNPs in the same intergenic regionas the causative/associated SNP, SNPs that are outside but near a gene(e.g., within 6 kb on either side, 5′ or 3′, of a gene boundary) thatharbors a causative/associated SNP, etc. Such useful LD SNPs can beselected from among the SNPs disclosed in Tables 1 and 2, for example.

Linkage disequilibrium in the human genome is reviewed in Wall et al.,“Haplotype blocks and linkage disequilibrium in the human genome,” NatRev Genet. 4(8):587-97 (August 2003); Garner et al., “On selectingmarkers for association studies: patterns of linkage disequilibriumbetween two and three diallelic loci,” Genet Epidemiol 24(1):57-67(January 2003); Ardlie et al., “Patterns of linkage disequilibrium inthe human genome,” Nat Rev Genet. 3(4):299-309 (April 2002); erratum inNat Rev Genet. 3(7):566 (July 2002); and Remm et al., “High-densitygenotyping and linkage disequilibrium in the human genome usingchromosome 22 as a model,” Curr Opin Chem Biol 6(1):24-30 (February2002); J. B. S. Haldane, “The combination of linkage values, and thecalculation of distances between the loci of linked factors,” J Genet.8:299-309 (1919); G. Mendel, Versuche über Pflanzen-Hybriden.Verhandlungen des naturforschenden Vereines in Brünn (Proceedings of theNatural History Society of Brünn) (1866); Genes IV, B. Lewin, ed.,Oxford University Press, N.Y. (1990); D. L. Hartl and A. G. ClarkPrinciples of Population Genetics 2^(nd) ed., Sinauer Associates, Inc.,Mass. (1989); J. H. Gillespie Population Genetics: A Concise Guide.2^(nd) ed., Johns Hopkins University Press (2004); R. C. Lewontin, “Theinteraction of selection and linkage. I. General considerations;heterotic models,” Genetics 49:49-67 (1964); P. G. Hoel, Introduction toMathematical Statistics 2^(nd) ed., John Wiley & Sons, Inc., N.Y.(1954); R. R. Hudson, “Two-locus sampling distributions and theirapplication,” Genetics 159:1805-1817 (2001); A. P. Dempster, N. M.Laird, D. B. Rubin, “Maximum likelihood from incomplete data via the EMalgorithm,” J R Stat Soc 39:1-38 (1977); L. Excoffier, M. Slatkin,“Maximum-likelihood estimation of molecular haplotype frequencies in adiploid population,” Mol Biol Evol 12(5):921-927 (1995); D. A. Tregouet,S. Escolano, L. Tiret, A. Mallet, J. L. Golmard, “A new algorithm forhaplotype-based association analysis: the Stochastic-EM algorithm,” AnnHum Genet. 68(Pt 2):165-177 (2004); A. D. Long and C. H. Langley C H,“The power of association studies to detect the contribution ofcandidate genetic loci to variation in complex traits,” Genome Research9:720-731 (1999); A. Agresti, Categorical Data Analysis, John Wiley &Sons, Inc., N.Y. (1990); K. Lange, Mathematical and Statistical Methodsfor Genetic Analysis, Springer-Verlag New York, Inc., N.Y. (1997); TheInternational HapMap Consortium, “The International HapMap Project,”Nature 426:789-796 (2003); The International HapMap Consortium, “Ahaplotype map of the human genome,” Nature 437:1299-1320 (2005); G. A.Thorisson, A. V. Smith, L. Krishnan, L. D. Stein, “The InternationalHapMap Project Web Site,” Genome Research 15:1591-1593 (2005); G.McVean, C. C. A. Spencer, R. Chaix, “Perspectives on human geneticvariation from the HapMap project,” PLoS Genetics 1(4):413-418 (2005);J. N. Hirschhorn, M. J. Daly, “Genome-wide association studies forcommon diseases and complex traits,” Nat Genet. 6:95-108 (2005); S. J.Schrodi, “A probabilistic approach to large-scale association scans: asemi-Bayesian method to detect disease-predisposing alleles,” SAGMB4(1):31 (2005); W. Y. S. Wang, B. J. Barratt, D. G. Clayton, J. A. Todd,“Genome-wide association studies: theoretical and practical concerns,”Nat Rev Genet. 6:109-118 (2005); J. K. Pritchard, M. Przeworski,“Linkage disequilibrium in humans: models and data,” Am J Hum Genet.69:1-14 (2001).

As discussed above, one aspect of the present invention is the discoverythat SNPs that are in certain LD distance with an interrogated SNP canalso be used as valid markers for determining whether an individual hasan increased or decreased risk of having or developing autoimmunedisease, or an individual's likelihood of benefiting from a drugtreatment such as TNF inhibitor treatment. As used herein, the term“interrogated SNP” refers to SNPs that have been found to be associatedwith an increased or decreased risk of disease using genotyping resultsand analysis, or other appropriate experimental method as exemplified inthe working examples described in this application. As used herein, theterm “LD SNP” refers to a SNP that has been characterized as a SNPassociating with an increased or decreased risk of diseases due to theirbeing in LD with the “interrogated SNP” under the methods of calculationdescribed in the application. Below, applicants describe the methods ofcalculation with which one of ordinary skilled in the art may determineif a particular SNP is in LD with an interrogated SNP. The parameter r²is commonly used in the genetics art to characterize the extent oflinkage disequilibrium between markers (Hudson, 2001). As used herein,the term “in LD with” refers to a particular SNP that is measured atabove the threshold of a parameter such as r² with an interrogated SNP.

It is now common place to directly observe genetic variants in a sampleof chromosomes obtained from a population. Suppose one has genotype dataat two genetic markers located on the same chromosome, for the markers Aand B. Further suppose that two alleles segregate at each of these twomarkers such that alleles A₁ and A₂ can be found at marker A and allelesB₁ and B₂ at marker B. Also assume that these two markers are on a humanautosome. If one is to examine a specific individual and find that theyare heterozygous at both markers, such that their two-marker genotype isA₁A₂B₁B₂, then there are two possible configurations: the individual inquestion could have the alleles A₁B₁ on one chromosome and A₂B₂ on theremaining chromosome; alternatively, the individual could have allelesA₁B₂ on one chromosome and A₂B₁ on the other. The arrangement of alleleson a chromosome is called a haplotype. In this illustration, theindividual could have haplotypes A₁B₁/A₂B₂ or A₁B₂/A₂B₁ (see Hartl andClark (1989) for a more complete description). The concept of linkageequilibrium relates the frequency of haplotypes to the allelefrequencies.

Assume that a sample of individuals is selected from a largerpopulation. Considering the two markers described above, each having twoalleles, there are four possible haplotypes: A₁B₁, A₁B₂, A₂B₁ and A₂B₂.Denote the frequencies of these four haplotypes with the followingnotation.

P ₁₁=freq(A ₁ B ₁)  (1)

P ₁₂=freq(A ₁ B ₂)  (2)

P ₂₁=freq(A ₂ B ₁)  (3)

P ₂₂=freq(A ₂ B ₂)  (4)

The allele frequencies at the two markers are then the sum of differenthaplotype frequencies, it is straightforward to write down a similar setof equations relating single-marker allele frequencies to two-markerhaplotype frequencies:

p ₁=freq(A ₁)=P ₁₁ +P ₁₂(5)

p ₂=freq(A ₂)=P ₂₁ +P ₂₂  (6)

q ₁=freq(B ₁)=P ₁₁ +P ₂₁  (7)

q ₂=freq(B ₂)=P ₁₂ +P ₂₂  (8)

Note that the four haplotype frequencies and the allele frequencies ateach marker must sum to a frequency of 1.

P ₁₁ +P ₁₂ +P ₂₁ +P ₂₂=1  (9)

p ₁ +p ₂=1  (10)

q ₁ +q ₂=1  (11)

If there is no correlation between the alleles at the two markers, onewould expect that the frequency of the haplotypes would be approximatelythe product of the composite alleles. Therefore,

P₁₁≈p₁q₁  (12)

P₁₂≈p₁q₂  (13)

P₂₁≈p₂q₁  (14)

P₂₂≈p₂q₂  (15)

These approximating equations (12)-(15) represent the concept of linkageequilibrium where there is independent assortment between the twomarkers—the alleles at the two markers occur together at random. Theseare represented as approximations because linkage equilibrium andlinkage disequilibrium are concepts typically thought of as propertiesof a sample of chromosomes; and as such they are susceptible tostochastic fluctuations due to the sampling process. Empirically, manypairs of genetic markers will be in linkage equilibrium, but certainlynot all pairs.

Having established the concept of linkage equilibrium above, applicantscan now describe the concept of linkage disequilibrium (LD), which isthe deviation from linkage equilibrium. Since the frequency of the A₁B₁haplotype is approximately the product of the allele frequencies for A₁and B₁ under the assumption of linkage equilibrium as statedmathematically in (12), a simple measure for the amount of departurefrom linkage equilibrium is the difference in these two quantities, D,

D=P ₁₁ −p ₁ q ₁  (16)

D=0 indicates perfect linkage equilibrium. Substantial departures fromD=0 indicates LD in the sample of chromosomes examined. Many propertiesof D are discussed in Lewontin (1964) including the maximum and minimumvalues that D can take. Mathematically, using basic algebra, it can beshown that D can also be written solely in terms of haplotypes:

D=P ₁₁ P ₂₂ −P ₁₂ P ₂₁  (17)

If one transforms D by squaring it and subsequently dividing by theproduct of the allele frequencies of A₁, A₂, B₁ and B₂, the resultingquantity, called r², is equivalent to the square of the Pearson'scorrelation coefficient commonly used in statistics (e.g., Hoel, 1954).

$\begin{matrix}{r^{2} = \frac{D^{2}}{p_{1}p_{2}q_{1}q_{2}}} & (18)\end{matrix}$

As with D, values of r² close to 0 indicate linkage equilibrium betweenthe two markers examined in the sample set. As values of r² increase,the two markers are said to be in linkage disequilibrium. The range ofvalues that r² can take are from 0 to 1. r²=1 when there is a perfectcorrelation between the alleles at the two markers.

In addition, the quantities discussed above are sample-specific. And assuch, it is necessary to formulate notation specific to the samplesstudied. In the approach discussed here, three types of samples are ofprimary interest: (i) a sample of chromosomes from individuals affectedby a disease-related phenotype (cases), (ii) a sample of chromosomesobtained from individuals not affected by the disease-related phenotype(controls), and (iii) a standard sample set used for the construction ofhaplotypes and calculation pairwise linkage disequilibrium. For theallele frequencies used in the development of the method describedbelow, an additional subscript will be added to denote either the caseor control sample sets.

p _(1,cs)=freq(A ₁ in cases)  (19)

p _(2,cs)=freq(A ₂ in cases)  (20)

q _(1,cs)=freq(B ₁ in cases)  (21)

q _(2,cs)=freq(B ₂ in cases)  (22)

Similarly,

p _(1,ct)=freq(A ₁ in controls)  (23)

p _(2,ct)=freq(A ₂ in controls)  (24)

q _(1,ct)=freq(B ₁ in controls)  (25)

q _(2,ct)=freq(B ₂ in controls)  (26)

As a well-accepted sample set is necessary for robust linkagedisequilibrium calculations, data obtained from the International HapMapproject (The International HapMap Consortium 2003, 2005; Thorisson etal, 2005; McVean et al, 2005) can be used for the calculation ofpairwise r² values. Indeed, the samples genotyped for the InternationalHapMap Project were selected to be representative examples from varioushuman sub-populations with sufficient numbers of chromosomes examined todraw meaningful and robust conclusions from the patterns of geneticvariation observed. The International HapMap project website(hapmap.org) contains a description of the project, methods utilized andsamples examined. It is useful to examine empirical data to get a senseof the patterns present in such data.

Haplotype frequencies were explicit arguments in equation (18) above.However, knowing the 2-marker haplotype frequencies requires that phaseto be determined for doubly heterozygous samples. When phase is unknownin the data examined, various algorithms can be used to infer phase fromthe genotype data. This issue was discussed earlier where the doublyheterozygous individual with a 2-SNP genotype of A₁A₂B₁B₂ could have oneof two different sets of chromosomes: A₁/B₁/A₂ B₂ or B₂/A₂ One suchalgorithm to estimate haplotype frequencies is theexpectation-maximization (EM) algorithm first formalized by Dempster etal. (1977). This algorithm is often used in genetics to infer haplotypefrequencies from genotype data (e.g. Excoffier and Slatkin (1995);Tregouet et al. (2004)). It should be noted that for the two-SNP caseexplored here, EM algorithms have very little error provided that theallele frequencies and sample sizes are not too small. The impact on r²values is typically negligible.

As correlated genetic markers share information, interrogation of SNPmarkers in LD with a disease-associated SNP marker can also havesufficient power to detect disease association (Long and Langley(1999)). The relationship between the power to directly finddisease-associated alleles and the power to indirectly detectdisease-association was investigated by Pritchard and Przeworski (2001).In a straight-forward derivation, it can be shown that the power todetect disease association indirectly at a marker locus in linkagedisequilibrium with a disease-association locus is approximately thesame as the power to detect disease-association directly at thedisease-association locus if the sample size is increased by a factor of

$\frac{1}{r^{2}}$

(the reciprocal of equation 18) at the marker in comparison with thedisease-association locus.

Therefore, if one calculated the power to detect disease-associationindirectly with an experiment having N samples, then equivalent power todirectly detect disease-association (at the actualdisease-susceptibility locus) would necessitate an experiment usingapproximately r² N samples. This elementary relationship between power,sample size and linkage disequilibrium can be used to derive an r²threshold value useful in determining whether or not genotyping markersin linkage disequilibrium with a SNP marker directly associated withdisease status has enough power to indirectly detectdisease-association.

To commence a derivation of the power to detect disease-associatedmarkers through an indirect process, define the effective chromosomalsample size as

$\begin{matrix}{{n = \frac{4\; N_{cs}N_{ct}}{N_{cs} + N_{ct}}};} & (27)\end{matrix}$

where N_(cs) and N_(ct) are the numbers of diploid cases and controls,respectively. This is necessary to handle situations where the numbersof cases and controls are not equivalent. For equal case and controlsample sizes, N_(cs)=N_(ct)=N, the value of the effective number ofchromosomes is simply n=2N—as expected. Let power be calculated for asignificance level a (such that traditional P-values below α will bedeemed statistically significant). Define the standard Gaussiandistribution function as Φ(•). Mathematically,

$\begin{matrix}{{\Phi (x)} = {\frac{1}{\sqrt{2\; \pi}}{\int_{- \infty}^{x}{^{- \frac{\theta^{2}}{2}}\ {\theta}}}}} & (28)\end{matrix}$

Alternatively, the following error function notation (Erf) may also beused,

$\begin{matrix}{{\Phi (x)} = {\frac{1}{2}\left\lbrack {1 + {{Erf}\left( \frac{x}{\sqrt{2}} \right)}} \right\rbrack}} & (29)\end{matrix}$

For example, Φ(1.644854)=0.95. The value of r² may be derived to yield apre-specified minimum amount of power to detect disease associationthough indirect interrogation. Noting that the LD SNP marker could bethe one that is carrying the disease-association allele, therefore thatthis approach constitutes a lower-bound model where all indirect powerresults are expected to be at least as large as those interrogated.

Denote by β the error rate for not detecting truly disease-associatedmarkers. Therefore, 1−β is the classical definition of statisticalpower. Substituting the Pritchard-Pzreworski result into the samplesize, the power to detect disease association at a significance level ofa is given by the approximation

$\begin{matrix}{{{1 - \beta} \cong {\Phi\left\lbrack {\frac{{q_{i,{cs}} - q_{1,{ct}}}}{\sqrt{\frac{{q_{1,{cs}}\left( {1 - q_{1,{cs}}} \right)} + {q_{1,{ct}}\left( {1 - q_{1,{ct}}} \right)}}{r^{2}n}}} - Z_{1 - {\alpha/2}}} \right\rbrack}};} & (30)\end{matrix}$

where Z_(u) is the inverse of the standard normal cumulativedistribution evaluated at u (uε(0,1)). Z_(u)=Φ⁻¹(u), whereΦ(Φ⁻¹(u))=Φ⁻¹(Φ(u))=u. For example, setting α=0.05, and therefore1−α/2=0.975, one obtains Z_(0.975)=1.95996. Next, setting power equal toa threshold of a minimum power of T,

$\begin{matrix}{T = {\Phi\left\lbrack {\frac{{q_{1,{cs}} - q_{1,{ct}}}}{\sqrt{\frac{{q_{1,{cs}}\left( {1 - q_{1,{cs}}} \right)} + {q_{1,{ct}}\left( {1 - q_{1,{ct}}} \right)}}{r^{2}n}}} - Z_{1 - {\alpha/2}}} \right\rbrack}} & (31)\end{matrix}$

and solving for r², the following threshold r² is obtained:

$\begin{matrix}{{r_{T}^{2} = {\frac{\left\lbrack {{q_{1,{cs}}\left( {1 - q_{1,{cs}}} \right)} + {q_{1,{ct}}\left( {1 - q_{1,{ct}}} \right)}} \right\rbrack}{{n\left( {q_{1,{cs}} - q_{1,{ct}}} \right)}^{2}}\left\lbrack {{\Phi^{- 1}(T)} + Z_{1 - {\alpha/2}}} \right\rbrack}^{2}}{{Or},}} & (32) \\{r_{T}^{2} = {\frac{\left( {Z_{r} + Z_{1 - {\alpha/2}}} \right)^{2}}{n}\left\lbrack \frac{q_{1,{cs}} - \left( q_{1,{cs}} \right)^{2} + q_{1,{ct}} - \left( q_{1,{ct}} \right)^{2}}{\left( {q_{1,{cs}} - q_{1,{ct}}} \right)^{2}} \right\rbrack}} & (33)\end{matrix}$

Suppose that r² is calculated between an interrogated SNP and a numberof other SNPs with varying levels of LD with the interrogated SNP. Thethreshold value r_(T) ² is the minimum value of linkage disequilibriumbetween the interrogated SNP and the potential LD SNPs such that the LDSNP still retains a power greater or equal to T for detectingdisease-association. For example, suppose that SNP rs200 is genotyped ina case-control disease-association study and it is found to beassociated with a disease phenotype. Further suppose that the minorallele frequency in 1,000 case chromosomes was found to be 16% incontrast with a minor allele frequency of 10% in 1,000 controlchromosomes. Given those measurements one could have predicted, prior tothe experiment, that the power to detect disease association at asignificance level of 0.05 was quite high—approximately 98% using a testof allelic association. Applying equation (32) one can calculate aminimum value of r² to indirectly assess disease association assumingthat the minor allele at SNP rs200 is truly disease-predisposing for athreshold level of power. If one sets the threshold level of power to be80%, then r_(T) ²=0.489 given the same significance level and chromosomenumbers as above. Hence, any SNP with a pairwise r² value with rs200greater than 0.489 is expected to have greater than 80% power to detectthe disease association. Further, this is assuming the conservativemodel where the LD SNP is disease-associated only through linkagedisequilibrium with the interrogated SNP rs200.

The contribution or association of particular SNPs and/or SNP haplotypeswith disease phenotypes, such as autoimmune disease, enables the SNPs ofthe present invention to be used to develop superior diagnostic testscapable of identifying individuals who express a detectable trait, suchas autoimmune disease, as the result of a specific genotype, orindividuals whose genotype places them at an increased or decreased riskof developing a detectable trait at a subsequent time as compared toindividuals who do not have that genotype. As described herein,diagnostics may be based on a single SNP or a group of SNPs. Combineddetection of a plurality of SNPs (for example, 2, 3, 4, 5, 6, 7, 8, 9,10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 24, 25, 30, 32, 48, 50, 64,96, 100, or any other number in-between, or more, of the SNPs providedin Table 1 and/or Table 2) typically increases the probability of anaccurate diagnosis. For example, the presence of a single SNP known tocorrelate with autoimmune disease might indicate a probability of 20%that an individual has or is at risk of developing autoimmune disease,whereas detection of five SNPs, each of which correlates with autoimmunedisease, might indicate a probability of 80% that an individual has oris at risk of developing autoimmune disease. To further increase theaccuracy of diagnosis or predisposition screening, analysis of the SNPsof the present invention can be combined with that of otherpolymorphisms or other risk factors of autoimmune disease, such asdisease symptoms, pathological characteristics, family history, diet,environmental factors or lifestyle factors.

It will be understood by practitioners skilled in the treatment ordiagnosis of autoimmune disease that the present invention generallydoes not intend to provide an absolute identification of individuals whoare at risk (or less at risk) of developing autoimmune disease, and/orpathologies related to autoimmune disease, but rather to indicate acertain increased (or decreased) degree or likelihood of developing thedisease based on statistically significant association results. However,this information is extremely valuable as it can be used to, forexample, initiate preventive treatments or to allow an individualcarrying one or more significant SNPs or SNP haplotypes to foreseewarning signs such as minor clinical symptoms, or to have regularlyscheduled physical exams to monitor for appearance of a condition inorder to identify and begin treatment of the condition at an earlystage. Particularly with diseases that are extremely debilitating orfatal if not treated on time, the knowledge of a potentialpredisposition, even if this predisposition is not absolute, wouldlikely contribute in a very significant manner to treatment efficacy.

The diagnostic techniques of the present invention may employ a varietyof methodologies to determine whether a test subject has a SNP or a SNPpattern associated with an increased or decreased risk of developing adetectable trait or whether the individual suffers from a detectabletrait as a result of a particular polymorphism/mutation, including, forexample, methods which enable the analysis of individual chromosomes forhaplotyping, family studies, single sperm DNA analysis, or somatichybrids. The trait analyzed using the diagnostics of the invention maybe any detectable trait that is commonly observed in pathologies anddisorders related to autoimmune disease.

Another aspect of the present invention relates to a method ofdetermining whether an individual is at risk (or less at risk) ofdeveloping one or more traits or whether an individual expresses one ormore traits as a consequence of possessing a particular trait-causing ortrait-influencing allele. These methods generally involve obtaining anucleic acid sample from an individual and assaying the nucleic acidsample to determine which nucleotide(s) is/are present at one or moreSNP positions, wherein the assayed nucleotide(s) is/are indicative of anincreased or decreased risk of developing the trait or indicative thatthe individual expresses the trait as a result of possessing aparticular trait-causing or trait-influencing allele.

In another embodiment, the SNP detection reagents of the presentinvention are used to determine whether an individual has one or moreSNP allele(s) affecting the level (e.g., the concentration of mRNA orprotein in a sample, etc.) or pattern (e.g., the kinetics of expression,rate of decomposition, stability profile, Km, Vmax, etc.) of geneexpression (collectively, the “gene response” of a cell or bodilyfluid). Such a determination can be accomplished by screening for mRNAor protein expression (e.g., by using nucleic acid arrays, RT-PCR,TaqMan assays, or mass spectrometry), identifying genes having alteredexpression in an individual, genotyping SNPs disclosed in Table 1 and/orTable 2 that could affect the expression of the genes having alteredexpression (e.g., SNPs that are in and/or around the gene(s) havingaltered expression, SNPs in regulatory/control regions, SNPs in and/oraround other genes that are involved in pathways that could affect theexpression of the gene(s) having altered expression, or all SNPs couldbe genotyped), and correlating SNP genotypes with altered geneexpression. In this manner, specific SNP alleles at particular SNP sitescan be identified that affect gene expression.

Therapeutics, Pharmacogenomics, and Drug Development

Therapeutic Methods and Compositions

In certain aspects of the invention, there are provided methods ofassaying (i.e., testing) one or more SNPs provided by the presentinvention in an individual's nucleic acids, and administering atherapeutic or preventive agent to the individual based on the allele(s)present at the SNP(s) having indicated that the individual can benefitfrom the therapeutic or preventive agent.

In further aspects of the invention, there are provided methods ofassaying one or more SNPs provided by the present invention in anindividual's nucleic acids, and administering a diagnostic agent (e.g.,an imaging agent), or otherwise carrying out further diagnosticprocedures on the individual, based on the allele(s) present at theSNP(s) having indicated that the diagnostic agents or diagnosticsprocedures are justified in the individual.

In yet other aspects of the invention, there is provided apharmaceutical pack comprising a therapeutic agent (e.g., a smallmolecule drug, antibody, peptide, antisense or RNAi nucleic acidmolecule, etc.) and a set of instructions for administration of thetherapeutic agent to an individual who has been tested for one or moreSNPs provided by the present invention.

Pharmacogenomics

The present invention provides methods for assessing thepharmacogenomics of a subject harboring particular SNP alleles orhaplotypes to a particular therapeutic agent or pharmaceutical compound,or to a class of such compounds. Pharmacogenomics deals with the roleswhich clinically significant hereditary variations (e.g., SNPs) play inthe response to drugs due to altered drug disposition and/or abnormalaction in affected persons. See, e.g., Roses, Nature 405, 857-865(2000); Gould Rothberg, Nature Biotechnology 19, 209-211 (2001);Eichelbaum, Clin Exp Pharmacol Physiol 23(10-11):983-985 (1996); andLinder, Clin Chem 43(2):254-266 (1997). The clinical outcomes of thesevariations can result in severe toxicity of therapeutic drugs in certainindividuals or therapeutic failure of drugs in certain individuals as aresult of individual variation in metabolism. Thus, the SNP genotype ofan individual can determine the way a therapeutic compound acts on thebody or the way the body metabolizes the compound. For example, SNPs indrug-metabolizing enzymes can affect the activity of these enzymes,which in turn can affect both the intensity and duration of drug action,as well as drug metabolism and clearance.

The discovery of SNPs in drug-metabolizing enzymes, drug-transporters,proteins for pharmaceutical agents, and other drug targets has explainedwhy some patients do not obtain the expected drug effects, show anexaggerated drug effect, or experience serious toxicity from standarddrug dosages. SNPs can be expressed in the phenotype of the extensivemetabolizer and in the phenotype of the poor metabolizer. Accordingly,SNPs may lead to allelic variants of a protein in which one or more ofthe protein functions in one population are different from those inanother population. SNPs and the encoded variant peptides thus providetargets to ascertain a genetic predisposition that can affect treatmentmodality. For example, in a ligand-based treatment, SNPs may give riseto amino terminal extracellular domains and/or other ligand-bindingregions of a receptor that are more or less active in ligand binding,thereby affecting subsequent protein activation. Accordingly, liganddosage would necessarily be modified to maximize the therapeutic effectwithin a given population containing particular SNP alleles orhaplotypes.

As an alternative to genotyping, specific variant proteins containingvariant amino acid sequences encoded by alternative SNP alleles could beidentified. Thus, pharmacogenomic characterization of an individualpermits the selection of effective compounds and effective dosages ofsuch compounds for prophylactic or therapeutic uses based on theindividual's SNP genotype, thereby enhancing and optimizing theeffectiveness of the therapy. Furthermore, the production of recombinantcells and transgenic animals containing particular SNPs/haplotypes alloweffective clinical design and testing of treatment compounds and dosageregimens. For example, transgenic animals can be produced that differonly in specific SNP alleles in a gene that is orthologous to a humandisease susceptibility gene.

Pharmacogenomic uses of the SNPs of the present invention provideseveral significant advantages for patient care, particularly inpredicting an individual's predisposition to autoimmune disease (e.g.,RA) and in predicting an individual's responsiveness to a drug(particularly for treating or preventing autoimmune disease).Pharmacogenomic characterization of an individual, based on anindividual's SNP genotype, can identify those individuals unlikely torespond to treatment with a particular medication and thereby allowsphysicians to avoid prescribing the ineffective medication to thoseindividuals. On the other hand, SNP genotyping of an individual mayenable physicians to select the appropriate medication and dosageregimen that will be most effective based on an individual's SNPgenotype. This information increases a physician's confidence inprescribing medications and motivates patients to comply with their drugregimens. Furthermore, pharmacogenomics may identify patientspredisposed to toxicity and adverse reactions to particular drugs ordrug dosages. Adverse drug reactions lead to more than 100,000 avoidabledeaths per year in the United States alone and therefore represent asignificant cause of hospitalization and death, as well as a significanteconomic burden on the healthcare system (Pfost et al., Trends inBiotechnology, August 2000.). Thus, pharmacogenomics based on the SNPsdisclosed herein has the potential to both save lives and reducehealthcare costs substantially.

Pharmacogenomics in general is discussed further in Rose et al.,“Pharmacogenetic analysis of clinically relevant genetic polymorphisms,”Methods Mol Med 85:225-37 (2003). Pharmacogenomics as it relates toAlzheimer's disease and other neurodegenerative disorders is discussedin Cacabelos, “Pharmacogenomics for the treatment of dementia,” Ann Med34(5):357-79 (2002); Maimone et al., “Pharmacogenomics ofneurodegenerative diseases,” Eur J Pharmacol 413(1):11-29 (February2001); and Poirier, “Apolipoprotein E: a pharmacogenetic target for thetreatment of Alzheimer's disease,” Mol Diagn 4(4):335-41 (December1999). Pharmacogenomics as it relates to cardiovascular disorders isdiscussed in Siest et al., “Pharmacogenomics of drugs affecting thecardiovascular system,” Clin Chem Lab Med 41(4):590-9 (April 2003);Mukherjee et al., “Pharmacogenomics in cardiovascular diseases,” ProgCardiovasc Dis 44(6):479-98 (May-June 2002); and Mooser et al.,“Cardiovascular pharmacogenetics in the SNP era,” J Thromb Haemost1(7):1398-402 (July 2003). Pharmacogenomics as it relates to cancer isdiscussed in McLeod et al., “Cancer pharmacogenomics: SNPs, chips, andthe individual patient,” Cancer Invest 21(4):630-40 (2003); and Watterset al., “Cancer pharmacogenomics: current and future applications,”Biochim Biophys Acta 1603(2):99-111 (March 2003).

Clinical Trials

In certain aspects of the invention, there are provided methods of usingthe SNPs disclosed herein to identify or stratify patient populationsfor clinical trials of a therapeutic, preventive, or diagnostic agent.

For instance, an aspect of the present invention includes selectingindividuals for clinical trials based on their SNP genotype. Forexample, individuals with SNP genotypes that indicate that they arelikely to positively respond to a drug can be included in the trials,whereas those individuals whose SNP genotypes indicate that they areless likely to or would not respond to the drug, or who are at risk forsuffering toxic effects or other adverse reactions, can be excluded fromthe clinical trials. This not only can improve the safety of clinicaltrials, but also can enhance the chances that the trial will demonstratestatistically significant efficacy.

In certain exemplary embodiments, SNPs of the invention can be used toselect individuals who are unlikely to respond positively to aparticular therapeutic agent (or class of therapeutic agents) based ontheir SNP genotype(s) to participate in a clinical trial of another typeof drug that may benefit them. Thus, in certain embodiments, the SNPs ofthe invention can be used to identify patient populations who do notadequately respond to current treatments and are therefore in need ofnew therapies. This not only benefits the patients themselves, but alsobenefits organizations such as pharmaceutical companies by enabling theidentification of populations that represent markets for new drugs, andenables the efficacy of these new drugs to be tested during clinicaltrials directly in individuals within these markets.

The SNP-containing nucleic acid molecules of the present invention arealso useful for monitoring the effectiveness of modulating compounds onthe expression or activity of a variant gene, or encoded product,particularly in a treatment regimen or in clinical trials. Thus, thegene expression pattern can serve as an indicator for the continuingeffectiveness of treatment with the compound, particularly withcompounds to which a patient can develop resistance, as well as anindicator for toxicities. The gene expression pattern can also serve asa marker indicative of a physiological response of the affected cells tothe compound. Accordingly, such monitoring would allow either increasedadministration of the compound or the administration of alternativecompounds to which the patient has not become resistant.

Furthermore, the SNPs of the present invention may have utility indetermining why certain previously developed drugs performed poorly inclinical trials and may help identify a subset of the population thatwould benefit from a drug that had previously performed poorly inclinical trials, thereby “rescuing” previously developed drugs, andenabling the drug to be made available to a particular autoimmunedisease patient population that can benefit from it.

Identification, Screening, and Use of Therapeutic Agents

The SNPs of the present invention also can be used to identify noveltherapeutic targets for autoimmune disease. For example, genescontaining the disease-associated variants (“variant genes”) or theirproducts, as well as genes or their products that are directly orindirectly regulated by or interacting with these variant genes or theirproducts, can be targeted for the development of therapeutics that, forexample, treat the disease or prevent or delay disease onset. Thetherapeutics may be composed of, for example, small molecules, proteins,protein fragments or peptides, antibodies, nucleic acids, or theirderivatives or mimetics which modulate the functions or levels of thetarget genes or gene products.

The invention further provides methods for identifying a compound oragent that can be used to treat autoimmune disease. The SNPs disclosedherein are useful as targets for the identification and/or developmentof therapeutic agents. A method for identifying a therapeutic agent orcompound typically includes assaying the ability of the agent orcompound to modulate the activity and/or expression of a SNP-containingnucleic acid or the encoded product and thus identifying an agent or acompound that can be used to treat a disorder characterized by undesiredactivity or expression of the SNP-containing nucleic acid or the encodedproduct. The assays can be performed in cell-based and cell-freesystems. Cell-based assays can include cells naturally expressing thenucleic acid molecules of interest or recombinant cells geneticallyengineered to express certain nucleic acid molecules.

Variant gene expression in a autoimmune disease patient can include, forexample, either expression of a SNP-containing nucleic acid sequence(for instance, a gene that contains a SNP can be transcribed into anmRNA transcript molecule containing the SNP, which can in turn betranslated into a variant protein) or altered expression of anormal/wild-type nucleic acid sequence due to one or more SNPs (forinstance, a regulatory/control region can contain a SNP that affects thelevel or pattern of expression of a normal transcript).

Assays for variant gene expression can involve direct assays of nucleicacid levels (e.g., mRNA levels), expressed protein levels, or ofcollateral compounds involved in a signal pathway. Further, theexpression of genes that are up- or down-regulated in response to thesignal pathway can also be assayed. In this embodiment, the regulatoryregions of these genes can be operably linked to a reporter gene such asluciferase.

Modulators of variant gene expression can be identified in a methodwherein, for example, a cell is contacted with a candidatecompound/agent and the expression of mRNA determined. The level ofexpression of mRNA in the presence of the candidate compound is comparedto the level of expression of mRNA in the absence of the candidatecompound. The candidate compound can then be identified as a modulatorof variant gene expression based on this comparison and be used to treata disorder such as autoimmune disease that is characterized by variantgene expression (e.g., either expression of a SNP-containing nucleicacid or altered expression of a normal/wild-type nucleic acid moleculedue to one or more SNPs that affect expression of the nucleic acidmolecule) due to one or more SNPs of the present invention. Whenexpression of mRNA is statistically significantly greater in thepresence of the candidate compound than in its absence, the candidatecompound is identified as a stimulator of nucleic acid expression. Whennucleic acid expression is statistically significantly less in thepresence of the candidate compound than in its absence, the candidatecompound is identified as an inhibitor of nucleic acid expression.

The invention further provides methods of treatment, with the SNP orassociated nucleic acid domain (e.g., catalytic domain,ligand/substrate-binding domain, regulatory/control region, etc.) orgene, or the encoded mRNA transcript, as a target, using a compoundidentified through drug screening as a gene modulator to modulatevariant nucleic acid expression. Modulation can include eitherup-regulation (i.e., activation or agonization) or down-regulation(i.e., suppression or antagonization) of nucleic acid expression.

Expression of mRNA transcripts and encoded proteins, either wild type orvariant, may be altered in individuals with a particular SNP allele in aregulatory/control element, such as a promoter or transcription factorbinding domain, that regulates expression. In this situation, methods oftreatment and compounds can be identified, as discussed herein, thatregulate or overcome the variant regulatory/control element, therebygenerating normal, or healthy, expression levels of either the wild typeor variant protein.

Pharmaceutical Compositions and Administration Thereof

Any of the autoimmune disease-associated proteins, and encoding nucleicacid molecules, disclosed herein can be used as therapeutic targets (ordirectly used themselves as therapeutic compounds) for treating orpreventing autoimmune disease or related pathologies, and the presentdisclosure enables therapeutic compounds (e.g., small molecules,antibodies, therapeutic proteins, RNAi and antisense molecules, etc.) tobe developed that target (or are comprised of) any of these therapeutictargets.

In general, a therapeutic compound will be administered in atherapeutically effective amount by any of the accepted modes ofadministration for agents that serve similar utilities. The actualamount of the therapeutic compound of this invention, i.e., the activeingredient, will depend upon numerous factors such as the severity ofthe disease to be treated, the age and relative health of the subject,the potency of the compound used, the route and form of administration,and other factors.

Therapeutically effective amounts of therapeutic compounds may rangefrom, for example, approximately 0.01-50 mg per kilogram body weight ofthe recipient per day; preferably about 0.1-20 mg/kg/day. Thus, as anexample, for administration to a 70-kg person, the dosage range wouldmost preferably be about 7 mg to 1.4 g per day.

In general, therapeutic compounds will be administered as pharmaceuticalcompositions by any one of the following routes: oral, systemic (e.g.,transdermal, intranasal, or by suppository), or parenteral (e.g.,intramuscular, intravenous, or subcutaneous) administration. Thepreferred manner of administration is oral or parenteral using aconvenient daily dosage regimen, which can be adjusted according to thedegree of affliction. Oral compositions can take the form of tablets,pills, capsules, semisolids, powders, sustained release formulations,solutions, suspensions, elixirs, aerosols, or any other appropriatecompositions.

The choice of formulation depends on various factors such as the mode ofdrug administration (e.g., for oral administration, formulations in theform of tablets, pills, or capsules are preferred) and thebioavailability of the drug substance. Recently, pharmaceuticalformulations have been developed especially for drugs that show poorbioavailability based upon the principle that bioavailability can beincreased by increasing the surface area, i.e., decreasing particlesize. For example, U.S. Pat. No. 4,107,288 describes a pharmaceuticalformulation having particles in the size range from 10 to 1,000 nm inwhich the active material is supported on a cross-linked matrix ofmacromolecules. U.S. Pat. No. 5,145,684 describes the production of apharmaceutical formulation in which the drug substance is pulverized tonanoparticles (average particle size of 400 nm) in the presence of asurface modifier and then dispersed in a liquid medium to give apharmaceutical formulation that exhibits remarkably highbioavailability.

Pharmaceutical compositions are comprised of, in general, a therapeuticcompound in combination with at least one pharmaceutically acceptableexcipient. Acceptable excipients are non-toxic, aid administration, anddo not adversely affect the therapeutic benefit of the therapeuticcompound. Such excipients may be any solid, liquid, semi-solid or, inthe case of an aerosol composition, gaseous excipient that is generallyavailable to one skilled in the art.

Solid pharmaceutical excipients include starch, cellulose, talc,glucose, lactose, sucrose, gelatin, malt, rice, flour, chalk, silicagel, magnesium stearate, sodium stearate, glycerol monostearate, sodiumchloride, dried skim milk and the like. Liquid and semisolid excipientsmay be selected from glycerol, propylene glycol, water, ethanol andvarious oils, including those of petroleum, animal, vegetable orsynthetic origin, e.g., peanut oil, soybean oil, mineral oil, sesameoil, etc. Preferred liquid carriers, particularly for injectablesolutions, include water, saline, aqueous dextrose, and glycols.

Compressed gases may be used to disperse a compound of this invention inaerosol form. Inert gases suitable for this purpose are nitrogen, carbondioxide, etc.

Other suitable pharmaceutical excipients and their formulations aredescribed in Remington's Pharmaceutical Sciences 18^(th) ed., E.W.Martin, ed., Mack Publishing Company (1990).

The amount of the therapeutic compound in a formulation can vary withinthe full range employed by those skilled in the art. Typically, theformulation will contain, on a weight percent (wt %) basis, from about0.01-99.99 wt % of the therapeutic compound based on the totalformulation, with the balance being one or more suitable pharmaceuticalexcipients. Preferably, the compound is present at a level of about1-80% wt.

Therapeutic compounds can be administered alone or in combination withother therapeutic compounds or in combination with one or more otheractive ingredient(s). For example, an inhibitor or stimulator of aautoimmune disease-associated protein can be administered in combinationwith another agent that inhibits or stimulates the activity of the sameor a different autoimmune disease-associated protein to therebycounteract the effects of autoimmune disease.

For further information regarding pharmacology, see Current Protocols inPharmacology, John Wiley & Sons, Inc., N.Y.

Nucleic Acid-Based Therapeutic Agents

The SNP-containing nucleic acid molecules disclosed herein, and theircomplementary nucleic acid molecules, may be used as antisenseconstructs to control gene expression in cells, tissues, and organisms.Antisense technology is well established in the art and extensivelyreviewed in Antisense Drug Technology: Principles, Strategies, andApplications, Crooke, ed., Marcel Dekker, Inc., N.Y. (2001). Anantisense nucleic acid molecule is generally designed to becomplementary to a region of mRNA expressed by a gene so that theantisense molecule hybridizes to the mRNA and thereby blocks translationof mRNA into protein. Various classes of antisense oligonucleotides areused in the art, two of which are cleavers and blockers. Cleavers, bybinding to target RNAs, activate intracellular nucleases (e.g., RNaseHor RNase L) that cleave the target RNA. Blockers, which also bind totarget RNAs, inhibit protein translation through steric hindrance ofribosomes. Exemplary blockers include peptide nucleic acids,morpholinos, locked nucleic acids, and methylphosphonates. See, e.g.,Thompson, Drug Discovery Today 7(17): 912-917 (2002). Antisenseoligonucleotides are directly useful as therapeutic agents, and are alsouseful for determining and validating gene function (e.g., in geneknock-out or knock-down experiments).

Antisense technology is further reviewed in: Layery et al., “Antisenseand RNAi: powerful tools in drug target discovery and validation,” CurrOpin Drug Discov Devel 6(4):561-9 (July 2003); Stephens et al.,“Antisense oligonucleotide therapy in cancer,” Curr Opin Mol Ther5(2):118-22 (April 2003); Kurreck, “Antisense technologies. Improvementthrough novel chemical modifications,” Eur J Biochem 270(8):1628-44(April 2003); Dias et al., “Antisense oligonucleotides: basic conceptsand mechanisms,” Mol Cancer Ther 1(5):347-55 (March 2002); Chen,“Clinical development of antisense oligonucleotides as anti-cancertherapeutics,” Methods Mol Med 75:621-36 (2003); Wang et al., “Antisenseanticancer oligonucleotide therapeutics,” Curr Cancer Drug Targets1(3):177-96 (November 2001); and Bennett, “Efficiency of antisenseoligonucleotide drug discovery,” Antisense Nucleic Acid Drug Dev12(3):215-24 (June 2002).

The SNPs of the present invention are particularly useful for designingantisense reagents that are specific for particular nucleic acidvariants. Based on the SNP information disclosed herein, antisenseoligonucleotides can be produced that specifically target mRNA moleculesthat contain one or more particular SNP nucleotides. In this manner,expression of mRNA molecules that contain one or more undesiredpolymorphisms (e.g., SNP nucleotides that lead to a defective proteinsuch as an amino acid substitution in a catalytic domain) can beinhibited or completely blocked. Thus, antisense oligonucleotides can beused to specifically bind a particular polymorphic form (e.g., a SNPallele that encodes a defective protein), thereby inhibiting translationof this form, but which do not bind an alternative polymorphic form(e.g., an alternative SNP nucleotide that encodes a protein havingnormal function).

Antisense molecules can be used to inactivate mRNA in order to inhibitgene expression and production of defective proteins. Accordingly, thesemolecules can be used to treat a disorder, such as autoimmune disease,characterized by abnormal or undesired gene expression or expression ofcertain defective proteins. This technique can involve cleavage by meansof ribozymes containing nucleotide sequences complementary to one ormore regions in the mRNA that attenuate the ability of the mRNA to betranslated. Possible mRNA regions include, for example, protein-codingregions and particularly protein-coding regions corresponding tocatalytic activities, substrate/ligand binding, or other functionalactivities of a protein.

The SNPs of the present invention are also useful for designing RNAinterference reagents that specifically target nucleic acid moleculeshaving particular SNP variants. RNA interference (RNAi), also referredto as gene silencing, is based on using double-stranded RNA (dsRNA)molecules to turn genes off. When introduced into a cell, dsRNAs areprocessed by the cell into short fragments (generally about 21, 22, or23 nucleotides in length) known as small interfering RNAs (siRNAs) whichthe cell uses in a sequence-specific manner to recognize and destroycomplementary RNAs. Thompson, Drug Discovery Today 7(17): 912-917(2002). Accordingly, an aspect of the present invention specificallycontemplates isolated nucleic acid molecules that are about 18-26nucleotides in length, preferably 19-25 nucleotides in length, and morepreferably 20, 21, 22, or 23 nucleotides in length, and the use of thesenucleic acid molecules for RNAi. Because RNAi molecules, includingsiRNAs, act in a sequence-specific manner, the SNPs of the presentinvention can be used to design RNAi reagents that recognize and destroynucleic acid molecules having specific SNP alleles/nucleotides (such asdeleterious alleles that lead to the production of defective proteins),while not affecting nucleic acid molecules having alternative SNPalleles (such as alleles that encode proteins having normal function).As with antisense reagents, RNAi reagents may be directly useful astherapeutic agents (e.g., for turning off defective, disease-causinggenes), and are also useful for characterizing and validating genefunction (e.g., in gene knock-out or knock-down experiments).

The following references provide a further review of RNAi: Reynolds etal., “Rational siRNA design for RNA interference,” Nat Biotechnol22(3):326-30 (March 2004); Epub Feb. 1, 2004; Chi et al., “Genomewideview of gene silencing by small interfering RNAs,” PNAS100(11):6343-6346 (2003); Vickers et al., “Efficient Reduction of TargetRNAs by Small Interfering RNA and RNase H-dependent Antisense Agents,” JBiol Chem 278:7108-7118 (2003); Agami, “RNAi and related mechanisms andtheir potential use for therapy,” Curr Opin Chem Biol 6(6):829-34(December 2002); Layery et al., “Antisense and RNAi: powerful tools indrug target discovery and validation,” Curr Opin Drug Discov Devel6(4):561-9 (July 2003); Shi, “Mammalian RNAi for the masses,” TrendsGenet. 19(1):9-12 (January 2003); Shuey et al., “RNAi: gene-silencing intherapeutic intervention,” Drug Discovery Today 7(20):1040-1046 (October2002); McManus et al., Nat Rev Genet. 3(10):737-47 (October 2002); Xiaet al., Nat Biotechnol 20(10):1006-10 (October 2002); Plasterk et al.,Curr Opin Genet Dev 10(5):562-7 (October 2000); Bosher et al., Nat CellBiol 2(2):E31-6 (February 2000); and Hunter, Curr Biol 17; 9(12):R440-2(June 1999).

Other Therapeutic Aspects

SNPs have many important uses in drug discovery, screening, anddevelopment, and thus the SNPs of the present invention are useful forimproving many different aspects of the drug development process.

For example, a high probability exists that, for any gene/proteinselected as a potential drug target, variants of that gene/protein willexist in a patient population. Thus, determining the impact ofgene/protein variants on the selection and delivery of a therapeuticagent should be an integral aspect of the drug discovery and developmentprocess. Jazwinska, A Trends Guide to Genetic Variation and GenomicMedicine S30-S36 (March 2002).

Knowledge of variants (e.g., SNPs and any corresponding amino acidpolymorphisms) of a particular therapeutic target (e.g., a gene, mRNAtranscript, or protein) enables parallel screening of the variants inorder to identify therapeutic candidates (e.g., small moleculecompounds, antibodies, antisense or RNAi nucleic acid compounds, etc.)that demonstrate efficacy across variants. Rothberg, Nat Biotechnol19(3):209-11 (March 2001). Such therapeutic candidates would be expectedto show equal efficacy across a larger segment of the patientpopulation, thereby leading to a larger potential market for thetherapeutic candidate.

Furthermore, identifying variants of a potential therapeutic targetenables the most common form of the target to be used for selection oftherapeutic candidates, thereby helping to ensure that the experimentalactivity that is observed for the selected candidates reflects the realactivity expected in the largest proportion of a patient population.Jazwinska, A Trends Guide to Genetic Variation and Genomic MedicineS30-S36 (March 2002).

Additionally, screening therapeutic candidates against all knownvariants of a target can enable the early identification of potentialtoxicities and adverse reactions relating to particular variants. Forexample, variability in drug absorption, distribution, metabolism andexcretion (ADME) caused by, for example, SNPs in therapeutic targets ordrug metabolizing genes, can be identified, and this information can beutilized during the drug development process to minimize variability indrug disposition and develop therapeutic agents that are safer across awider range of a patient population. The SNPs of the present invention,including the variant proteins and encoding polymorphic nucleic acidmolecules provided in Tables 1 and 2, are useful in conjunction with avariety of toxicology methods established in the art, such as those setforth in Current Protocols in Toxicology, John Wiley & Sons, Inc., N.Y.

Furthermore, therapeutic agents that target any art-known proteins (ornucleic acid molecules, either RNA or DNA) may cross-react with thevariant proteins (or polymorphic nucleic acid molecules) disclosed inTable 1, thereby significantly affecting the pharmacokinetic propertiesof the drug. Consequently, the protein variants and the SNP-containingnucleic acid molecules disclosed in Tables 1 and 2 are useful indeveloping, screening, and evaluating therapeutic agents that targetcorresponding art-known protein forms (or nucleic acid molecules).Additionally, as discussed above, knowledge of all polymorphic forms ofa particular drug target enables the design of therapeutic agents thatare effective against most or all such polymorphic forms of the drugtarget.

A subject suffering from a pathological condition ascribed to a SNP,such as autoimmune disease, may be treated so as to correct the geneticdefect. See Kren et al., Proc Natl Acad Sci USA 96:10349-10354 (1999).Such a subject can be identified by any method that can detect thepolymorphism in a biological sample drawn from the subject. Such agenetic defect may be permanently corrected by administering to such asubject a nucleic acid fragment incorporating a repair sequence thatsupplies the normal/wild-type nucleotide at the position of the SNP.This site-specific repair sequence can encompass an RNA/DNAoligonucleotide that operates to promote endogenous repair of asubject's genomic DNA. The site-specific repair sequence is administeredin an appropriate vehicle, such as a complex with polyethylenimine,encapsulated in anionic liposomes, a viral vector such as an adenovirus,or other pharmaceutical composition that promotes intracellular uptakeof the administered nucleic acid. A genetic defect leading to an inbornpathology may then be overcome, as the chimeric oligonucleotides induceincorporation of the normal sequence into the subject's genome. Uponincorporation, the normal gene product is expressed, and the replacementis propagated, thereby engendering a permanent repair and therapeuticenhancement of the clinical condition of the subject.

In cases in which a cSNP results in a variant protein that is ascribedto be the cause of, or a contributing factor to, a pathologicalcondition, a method of treating such a condition can includeadministering to a subject experiencing the pathology thewild-type/normal cognate of the variant protein. Once administered in aneffective dosing regimen, the wild-type cognate provides complementationor remediation of the pathological condition.

Human Identification Applications

In addition to their predictive, diagnostic, prognostic, therapeutic,and preventive uses in autoimmune disease and related pathologies, theSNPs provided by the present invention are also useful as humanidentification markers for such applications as forensics, paternitytesting, and biometrics. See, e.g., Gill, “An assessment of the utilityof single nucleotide polymorphisms (SNPs) for forensic purposes,” Int JLegal Med 114(4-5):204-10 (2001). Genetic variations in the nucleic acidsequences between individuals can be used as genetic markers to identifyindividuals and to associate a biological sample with an individual.Determination of which nucleotides occupy a set of SNP positions in anindividual identifies a set of SNP markers that distinguishes theindividual. The more SNP positions that are analyzed, the lower theprobability that the set of SNPs in one individual is the same as thatin an unrelated individual. Preferably, if multiple sites are analyzed,the sites are unlinked (i.e., inherited independently). Thus, preferredsets of SNPs can be selected from among the SNPs disclosed herein, whichmay include SNPs on different chromosomes, SNPs on different chromosomearms, and/or SNPs that are dispersed over substantial distances alongthe same chromosome arm.

Furthermore, among the SNPs disclosed herein, preferred SNPs for use incertain forensic/human identification applications include SNPs locatedat degenerate codon positions (i.e., the third position in certaincodons which can be one of two or more alternative nucleotides and stillencode the same amino acid), since these SNPs do not affect the encodedprotein. SNPs that do not affect the encoded protein are expected to beunder less selective pressure and are therefore expected to be morepolymorphic in a population, which is typically an advantage forforensic/human identification applications. However, for certainforensics/human identification applications, such as predictingphenotypic characteristics (e.g., inferring ancestry or inferring one ormore physical characteristics of an individual) from a DNA sample, itmay be desirable to utilize SNPs that affect the encoded protein.

For many of the SNPs disclosed in Tables 1 and 2 (which are identifiedas “Applera” SNP source), Tables 1 and 2 provide SNP allele frequenciesobtained by re-sequencing the DNA of chromosomes from 39 individuals(Tables 1 and 2 also provide allele frequency information for “Celera”source SNPs and, where available, public SNPs from dbEST, HGBASE, and/orHGMD). The allele frequencies provided in Tables 1 and 2 enable theseSNPs to be readily used for human identification applications. Althoughany SNP disclosed in Table 1 and/or Table 2 could be used for humanidentification, the closer that the frequency of the minor allele at aparticular SNP site is to 50%, the greater the ability of that SNP todiscriminate between different individuals in a population since itbecomes increasingly likely that two randomly selected individuals wouldhave different alleles at that SNP site. Using the SNP allelefrequencies provided in Tables 1 and 2, one of ordinary skill in the artcould readily select a subset of SNPs for which the frequency of theminor allele is, for example, at least 1%, 2%, 5%, 10%, 20%, 25%, 30%,40%, 45%, or 50%, or any other frequency in-between. Thus, since Tables1 and 2 provide allele frequencies based on the re-sequencing of thechromosomes from 39 individuals, a subset of SNPs could readily beselected for human identification in which the total allele count of theminor allele at a particular SNP site is, for example, at least 1, 2, 4,8, 10, 16, 20, 24, 30, 32, 36, 38, 39, 40, or any other numberin-between.

Furthermore, Tables 1 and 2 also provide population group(interchangeably referred to herein as ethnic or racial groups)information coupled with the extensive allele frequency information. Forexample, the group of 39 individuals whose DNA was re-sequenced wasmade-up of 20 Caucasians and 19 African-Americans. This population groupinformation enables further refinement of SNP selection for humanidentification. For example, preferred SNPs for human identification canbe selected from Tables 1 and 2 that have similar allele frequencies inboth the Caucasian and African-American populations; thus, for example,SNPs can be selected that have equally high discriminatory power in bothpopulations. Alternatively, SNPs can be selected for which there is astatistically significant difference in allele frequencies between theCaucasian and African-American populations (as an extreme example, aparticular allele may be observed only in either the Caucasian or theAfrican-American population group but not observed in the otherpopulation group); such SNPs are useful, for example, for predicting therace/ethnicity of an unknown perpetrator from a biological sample suchas a hair or blood stain recovered at a crime scene. For a discussion ofusing SNPs to predict ancestry from a DNA sample, including statisticalmethods, see Frudakis et al., “A Classifier for the SNP-Based Inferenceof Ancestry,” Journal of Forensic Sciences 48(4):771-782 (2003).

SNPs have numerous advantages over other types of polymorphic markers,such as short tandem repeats (STRs). For example, SNPs can be easilyscored and are amenable to automation, making SNPs the markers of choicefor large-scale forensic databases. SNPs are found in much greaterabundance throughout the genome than repeat polymorphisms. Populationfrequencies of two polymorphic forms can usually be determined withgreater accuracy than those of multiple polymorphic forms atmulti-allelic loci. SNPs are mutationally more stable than repeatpolymorphisms. SNPs are not susceptible to artifacts such as stutterbands that can hinder analysis. Stutter bands are frequently encounteredwhen analyzing repeat polymorphisms, and are particularly troublesomewhen analyzing samples such as crime scene samples that may containmixtures of DNA from multiple sources. Another significant advantage ofSNP markers over STR markers is the much shorter length of nucleic acidneeded to score a SNP. For example, STR markers are generally severalhundred base pairs in length. A SNP, on the other hand, comprises asingle nucleotide, and generally a short conserved region on either sideof the SNP position for primer and/or probe binding. This makes SNPsmore amenable to typing in highly degraded or aged biological samplesthat are frequently encountered in forensic casework in which DNA may befragmented into short pieces.

SNPs also are not subject to microvariant and “off-ladder” allelesfrequently encountered when analyzing STR loci. Microvariants aredeletions or insertions within a repeat unit that change the size of theamplified DNA product so that the amplified product does not migrate atthe same rate as reference alleles with normal sized repeat units. Whenseparated by size, such as by electrophoresis on a polyacrylamide gel,microvariants do not align with a reference allelic ladder of standardsized repeat units, but rather migrate between the reference alleles.The reference allelic ladder is used for precise sizing of alleles forallele classification; therefore alleles that do not align with thereference allelic ladder lead to substantial analysis problems.Furthermore, when analyzing multi-allelic repeat polymorphisms,occasionally an allele is found that consists of more or less repeatunits than has been previously seen in the population, or more or lessrepeat alleles than are included in a reference allelic ladder. Thesealleles will migrate outside the size range of known alleles in areference allelic ladder, and therefore are referred to as “off-ladder”alleles. In extreme cases, the allele may contain so few or so manyrepeats that it migrates well out of the range of the reference allelicladder. In this situation, the allele may not even be observed, or, withmultiplex analysis, it may migrate within or close to the size range foranother locus, further confounding analysis.

SNP analysis avoids the problems of microvariants and off-ladder allelesencountered in STR analysis. Importantly, microvariants and off-ladderalleles may provide significant problems, and may be completely missed,when using analysis methods such as oligonucleotide hybridizationarrays, which utilize oligonucleotide probes specific for certain knownalleles. Furthermore, off-ladder alleles and microvariants encounteredwith STR analysis, even when correctly typed, may lead to improperstatistical analysis, since their frequencies in the population aregenerally unknown or poorly characterized, and therefore the statisticalsignificance of a matching genotype may be questionable. All theseadvantages of SNP analysis are considerable in light of the consequencesof most DNA identification cases, which may lead to life imprisonmentfor an individual, or re-association of remains to the family of adeceased individual.

DNA can be isolated from biological samples such as blood, bone, hair,saliva, or semen, and compared with the DNA from a reference source atparticular SNP positions. Multiple SNP markers can be assayedsimultaneously in order to increase the power of discrimination and thestatistical significance of a matching genotype. For example,oligonucleotide arrays can be used to genotype a large number of SNPssimultaneously. The SNPs provided by the present invention can beassayed in combination with other polymorphic genetic markers, such asother SNPs known in the art or STRs, in order to identify an individualor to associate an individual with a particular biological sample.

Furthermore, the SNPs provided by the present invention can be genotypedfor inclusion in a database of DNA genotypes, for example, a criminalDNA databank such as the FBI's Combined DNA Index System (CODIS)database. A genotype obtained from a biological sample of unknown sourcecan then be queried against the database to find a matching genotype,with the SNPs of the present invention providing nucleotide positions atwhich to compare the known and unknown DNA sequences for identity.Accordingly, the present invention provides a database comprising novelSNPs or SNP alleles of the present invention (e.g., the database cancomprise information indicating which alleles are possessed byindividual members of a population at one or more novel SNP sites of thepresent invention), such as for use in forensics, biometrics, or otherhuman identification applications. Such a database typically comprises acomputer-based system in which the SNPs or SNP alleles of the presentinvention are recorded on a computer readable medium.

The SNPs of the present invention can also be assayed for use inpaternity testing. The object of paternity testing is usually todetermine whether a male is the father of a child. In most cases, themother of the child is known and thus, the mother's contribution to thechild's genotype can be traced. Paternity testing investigates whetherthe part of the child's genotype not attributable to the mother isconsistent with that of the putative father. Paternity testing can beperformed by analyzing sets of polymorphisms in the putative father andthe child, with the SNPs of the present invention providing nucleotidepositions at which to compare the putative father's and child's DNAsequences for identity. If the set of polymorphisms in the childattributable to the father does not match the set of polymorphisms ofthe putative father, it can be concluded, barring experimental error,that the putative father is not the father of the child. If the set ofpolymorphisms in the child attributable to the father match the set ofpolymorphisms of the putative father, a statistical calculation can beperformed to determine the probability of coincidental match, and aconclusion drawn as to the likelihood that the putative father is thetrue biological father of the child.

In addition to paternity testing, SNPs are also useful for other typesof kinship testing, such as for verifying familial relationships forimmigration purposes, or for cases in which an individual alleges to berelated to a deceased individual in order to claim an inheritance fromthe deceased individual, etc. For further information regarding theutility of SNPs for paternity testing and other types of kinshiptesting, including methods for statistical analysis, see Krawczak,“Informativity assessment for biallelic single nucleotidepolymorphisms,” Electrophoresis 20(8):1676-81 (June 1999).

The use of the SNPs of the present invention for human identificationfurther extends to various authentication systems, commonly referred toas biometric systems, which typically convert physical characteristicsof humans (or other organisms) into digital data. Biometric systemsinclude various technological devices that measure such uniqueanatomical or physiological characteristics as finger, thumb, or palmprints; hand geometry; vein patterning on the back of the hand; bloodvessel patterning of the retina and color and texture of the iris;facial characteristics; voice patterns; signature and typing dynamics;and DNA. Such physiological measurements can be used to verify identityand, for example, restrict or allow access based on the identification.Examples of applications for biometrics include physical area security,computer and network security, aircraft passenger check-in and boarding,financial transactions, medical records access, government benefitdistribution, voting, law enforcement, passports, visas and immigration,prisons, various military applications, and for restricting access toexpensive or dangerous items, such as automobiles or guns. See, forexample, O'Connor, Stanford Technology Law Review, and U.S. Pat. No.6,119,096.

Groups of SNPs, particularly the SNPs provided by the present invention,can be typed to uniquely identify an individual for biometricapplications such as those described above. Such SNP typing can readilybe accomplished using, for example, DNA chips/arrays. Preferably, aminimally invasive means for obtaining a DNA sample is utilized. Forexample, PCR amplification enables sufficient quantities of DNA foranalysis to be obtained from buccal swabs or fingerprints, which containDNA-containing skin cells and oils that are naturally transferred duringcontact.

Further information regarding techniques for using SNPs inforensic/human identification applications can be found, for example, inCurrent Protocols in Human Genetics 14.1-14.7, John Wiley & Sons, N.Y.(2002).

Variant Proteins, Antibodies, Vectors, Host Cells, & Uses Thereof

Variant Proteins Encoded by SNP-Containing Nucleic Acid Molecules

The present invention provides SNP-containing nucleic acid molecules,many of which encode proteins having variant amino acid sequences ascompared to the art-known (i.e., wild-type) proteins. Amino acidsequences encoded by the polymorphic nucleic acid molecules of thepresent invention are referred to as SEQ ID NOS:17-32 in Table 1 andprovided in the Sequence Listing. These variants will generally bereferred to herein as variant proteins/peptides/polypeptides, orpolymorphic proteins/peptides/polypeptides of the present invention. Theterms “protein,” “peptide,” and “polypeptide” are used hereininterchangeably.

A variant protein of the present invention may be encoded by, forexample, a nonsynonymous nucleotide substitution at any one of the cSNPpositions disclosed herein. In addition, variant proteins may alsoinclude proteins whose expression, structure, and/or function is alteredby a SNP disclosed herein, such as a SNP that creates or destroys a stopcodon, a SNP that affects splicing, and a SNP in control/regulatoryelements, e.g. promoters, enhancers, or transcription factor bindingdomains.

As used herein, a protein or peptide is said to be “isolated” or“purified” when it is substantially free of cellular material orchemical precursors or other chemicals. The variant proteins of thepresent invention can be purified to homogeneity or other lower degreesof purity. The level of purification will be based on the intended use.The key feature is that the preparation allows for the desired functionof the variant protein, even if in the presence of considerable amountsof other components.

As used herein, “substantially free of cellular material” includespreparations of the variant protein having less than about 30% (by dryweight) other proteins (i.e., contaminating protein), less than about20% other proteins, less than about 10% other proteins, or less thanabout 5% other proteins. When the variant protein is recombinantlyproduced, it can also be substantially free of culture medium, i.e.,culture medium represents less than about 20% of the volume of theprotein preparation.

The language “substantially free of chemical precursors or otherchemicals” includes preparations of the variant protein in which it isseparated from chemical precursors or other chemicals that are involvedin its synthesis. In one embodiment, the language “substantially free ofchemical precursors or other chemicals” includes preparations of thevariant protein having less than about 30% (by dry weight) chemicalprecursors or other chemicals, less than about 20% chemical precursorsor other chemicals, less than about 10% chemical precursors or otherchemicals, or less than about 5% chemical precursors or other chemicals.

An isolated variant protein may be purified from cells that naturallyexpress it, purified from cells that have been altered to express it(recombinant host cells), or synthesized using known protein synthesismethods. For example, a nucleic acid molecule containing SNP(s) encodingthe variant protein can be cloned into an expression vector, theexpression vector introduced into a host cell, and the variant proteinexpressed in the host cell. The variant protein can then be isolatedfrom the cells by any appropriate purification scheme using standardprotein purification techniques. Examples of these techniques aredescribed in detail below. Sambrook and Russell, Molecular Cloning: ALaboratory Manual, Cold Spring Harbor Laboratory Press, N.Y. (2000).

The present invention provides isolated variant proteins that comprise,consist of or consist essentially of amino acid sequences that containone or more variant amino acids encoded by one or more codons thatcontain a SNP of the present invention.

Accordingly, the present invention provides variant proteins thatconsist of amino acid sequences that contain one or more amino acidpolymorphisms (or truncations or extensions due to creation ordestruction of a stop codon, respectively) encoded by the SNPs providedin Table 1 and/or Table 2. A protein consists of an amino acid sequencewhen the amino acid sequence is the entire amino acid sequence of theprotein.

The present invention further provides variant proteins that consistessentially of amino acid sequences that contain one or more amino acidpolymorphisms (or truncations or extensions due to creation ordestruction of a stop codon, respectively) encoded by the SNPs providedin Table 1 and/or Table 2. A protein consists essentially of an aminoacid sequence when such an amino acid sequence is present with only afew additional amino acid residues in the final protein.

The present invention further provides variant proteins that compriseamino acid sequences that contain one or more amino acid polymorphisms(or truncations or extensions due to creation or destruction of a stopcodon, respectively) encoded by the SNPs provided in Table 1 and/orTable 2. A protein comprises an amino acid sequence when the amino acidsequence is at least part of the final amino acid sequence of theprotein. In such a fashion, the protein may contain only the variantamino acid sequence or have additional amino acid residues, such as acontiguous encoded sequence that is naturally associated with it orheterologous amino acid residues. Such a protein can have a fewadditional amino acid residues or can comprise many more additionalamino acids. A brief description of how various types of these proteinscan be made and isolated is provided below.

The variant proteins of the present invention can be attached toheterologous sequences to form chimeric or fusion proteins. Suchchimeric and fusion proteins comprise a variant protein operativelylinked to a heterologous protein having an amino acid sequence notsubstantially homologous to the variant protein. “Operatively linked”indicates that the coding sequences for the variant protein and theheterologous protein are ligated in-frame. The heterologous protein canbe fused to the N-terminus or C-terminus of the variant protein. Inanother embodiment, the fusion protein is encoded by a fusionpolynucleotide that is synthesized by conventional techniques includingautomated DNA synthesizers. Alternatively, PCR amplification of genefragments can be carried out using anchor primers which give rise tocomplementary overhangs between two consecutive gene fragments which cansubsequently be annealed and re-amplified to generate a chimeric genesequence. See Ausubel et al., Current Protocols in Molecular Biology(1992). Moreover, many expression vectors are commercially availablethat already encode a fusion moiety (e.g., a GST protein). A variantprotein-encoding nucleic acid can be cloned into such an expressionvector such that the fusion moiety is linked in-frame to the variantprotein.

In many uses, the fusion protein does not affect the activity of thevariant protein. The fusion protein can include, but is not limited to,enzymatic fusion proteins, for example, beta-galactosidase fusions,yeast two-hybrid GAL fusions, poly-His fusions, MYC-tagged, HI-taggedand Ig fusions. Such fusion proteins, particularly poly-His fusions, canfacilitate their purification following recombinant expression. Incertain host cells (e.g., mammalian host cells), expression and/orsecretion of a protein can be increased by using a heterologous signalsequence. Fusion proteins are further described in, for example, Terpe,“Overview of tag protein fusions: from molecular and biochemicalfundamentals to commercial systems,” Appl Microbiol Biotechnol60(5):523-33 (January 2003); Epub Nov. 7, 2002; Graddis et al.,“Designing proteins that work using recombinant technologies,” CurrPharm Biotechnol 3(4):285-97 (December 2002); and Nilsson et al.,“Affinity fusion strategies for detection, purification, andimmobilization of recombinant proteins,” Protein Expr Purif 11(1):1-16(October 1997).

In certain embodiments, novel compositions of the present invention alsorelate to further obvious variants of the variant polypeptides of thepresent invention, such as naturally-occurring mature forms (e.g.,allelic variants), non-naturally occurring recombinantly-derivedvariants, and orthologs and paralogs of such proteins that sharesequence homology. Such variants can readily be generated usingart-known techniques in the fields of recombinant nucleic acidtechnology and protein biochemistry.

Further variants of the variant polypeptides disclosed in Table 1 cancomprise an amino acid sequence that shares at least 70-80%, 80-85%,85-90%, 91%, 92%, 93%, 94%, 95%, 96%, 97%, 98%, or 99% sequence identitywith an amino acid sequence disclosed in Table 1 (or a fragment thereof)and that includes a novel amino acid residue (allele) disclosed in Table1 (which is encoded by a novel SNP allele). Thus, an aspect of thepresent invention that is specifically contemplated are polypeptidesthat have a certain degree of sequence variation compared with thepolypeptide sequences shown in Table 1, but that contain a novel aminoacid residue (allele) encoded by a novel SNP allele disclosed herein. Inother words, as long as a polypeptide contains a novel amino acidresidue disclosed herein, other portions of the polypeptide that flankthe novel amino acid residue can vary to some degree from thepolypeptide sequences shown in Table 1.

Full-length pre-processed forms, as well as mature processed forms, ofproteins that comprise one of the amino acid sequences disclosed hereincan readily be identified as having complete sequence identity to one ofthe variant proteins of the present invention as well as being encodedby the same genetic locus as the variant proteins provided herein.

Orthologs of a variant peptide can readily be identified as having somedegree of significant sequence homology/identity to at least a portionof a variant peptide as well as being encoded by a gene from anotherorganism. Preferred orthologs will be isolated from non-human mammals,preferably primates, for the development of human therapeutic targetsand agents. Such orthologs can be encoded by a nucleic acid sequencethat hybridizes to a variant peptide-encoding nucleic acid moleculeunder moderate to stringent conditions depending on the degree ofrelatedness of the two organisms yielding the homologous proteins.

Variant proteins include, but are not limited to, proteins containingdeletions, additions and substitutions in the amino acid sequence causedby the SNPs of the present invention. One class of substitutions isconserved amino acid substitutions in which a given amino acid in apolypeptide is substituted for another amino acid of likecharacteristics. Typical conservative substitutions are replacements,one for another, among the aliphatic amino acids Ala, Val, Leu, and Be;interchange of the hydroxyl residues Ser and Thr; exchange of the acidicresidues Asp and Glu; substitution between the amide residues Asn andGln; exchange of the basic residues Lys and Arg; and replacements amongthe aromatic residues Phe and Tyr. Guidance concerning which amino acidchanges are likely to be phenotypically silent are found, for example,in Bowie et al., Science 247:1306-1310 (1990).

Variant proteins can be fully functional or can lack function in one ormore activities, e.g. ability to bind another molecule, ability tocatalyze a substrate, ability to mediate signaling, etc. Fullyfunctional variants typically contain only conservative variations orvariations in non-critical residues or in non-critical regions.Functional variants can also contain substitution of similar amino acidsthat result in no change or an insignificant change in function.Alternatively, such substitutions may positively or negatively affectfunction to some degree. Non-functional variants typically contain oneor more non-conservative amino acid substitutions, deletions,insertions, inversions, truncations or extensions, or a substitution,insertion, inversion, or deletion of a critical residue or in a criticalregion.

Amino acids that are essential for function of a protein can beidentified by methods known in the art, such as site-directedmutagenesis or alanine-scanning mutagenesis, particularly using theamino acid sequence and polymorphism information provided in Table 1.Cunningham et al., Science 244:1081-1085 (1989). The latter procedureintroduces single alanine mutations at every residue in the molecule.The resulting mutant molecules are then tested for biological activitysuch as enzyme activity or in assays such as an in vitro proliferativeactivity. Sites that are critical for binding partner/substrate bindingcan also be determined by structural analysis such as crystallization,nuclear magnetic resonance or photoaffinity labeling. Smith et al., JMol Biol 224:899-904 (1992); de Vos et al., Science 255:306-312 (1992).

Polypeptides can contain amino acids other than the 20 amino acidscommonly referred to as the 20 naturally occurring amino acids. Further,many amino acids, including the terminal amino acids, may be modified bynatural processes, such as processing and other post-translationalmodifications, or by chemical modification techniques well known in theart. Accordingly, the variant proteins of the present invention alsoencompass derivatives or analogs in which a substituted amino acidresidue is not one encoded by the genetic code, in which a substituentgroup is included, in which the mature polypeptide is fused with anothercompound, such as a compound to increase the half-life of thepolypeptide (e.g., polyethylene glycol), or in which additional aminoacids are fused to the mature polypeptide, such as a leader or secretorysequence or a sequence for purification of the mature polypeptide or apro-protein sequence.

Known protein modifications include, but are not limited to,acetylation, acylation, ADP-ribosylation, amidation, covalent attachmentof flavin, covalent attachment of a heme moiety, covalent attachment ofa nucleotide or nucleotide derivative, covalent attachment of a lipid orlipid derivative, covalent attachment of phosphotidylinositol,cross-linking, cyclization, disulfide bond formation, demethylation,formation of covalent crosslinks, formation of cystine, formation ofpyroglutamate, formylation, gamma carboxylation, glycosylation, GPIanchor formation, hydroxylation, iodination, methylation,myristoylation, oxidation, proteolytic processing, phosphorylation,prenylation, racemization, selenoylation, sulfation, transfer-RNAmediated addition of amino acids to proteins such as arginylation, andubiquitination.

Such protein modifications are well known to those of skill in the artand have been described in great detail in the scientific literature.Particularly common modifications, for example glycosylation, lipidattachment, sulfation, gamma-carboxylation of glutamic acid residues,hydroxylation and ADP-ribosylation, are described in most basic texts,such as Proteins—Structure and Molecular Properties 2nd Ed., T. E.Creighton, W.H. Freeman and Company, N.Y. (1993); F. Wold,Posttranslational Covalent Modification of Proteins 1-12, B. C. Johnson,ed., Academic Press, N.Y. (1983); Seifter et al., Meth Enzymol182:626-646 (1990); and Rattan et al., Ann NY Acad Sci 663:48-62 (1992).

The present invention further provides fragments of the variant proteinsin which the fragments contain one or more amino acid sequencevariations (e.g., substitutions, or truncations or extensions due tocreation or destruction of a stop codon) encoded by one or more SNPsdisclosed herein. The fragments to which the invention pertains,however, are not to be construed as encompassing fragments that havebeen disclosed in the prior art before the present invention.

As used herein, a fragment may comprise at least about 4, 8, 10, 12, 14,16, 18, 20, 25, 30, 50, 100 (or any other number in-between) or morecontiguous amino acid residues from a variant protein, wherein at leastone amino acid residue is affected by a SNP of the present invention,e.g., a variant amino acid residue encoded by a nonsynonymous nucleotidesubstitution at a cSNP position provided by the present invention. Thevariant amino acid encoded by a cSNP may occupy any residue positionalong the sequence of the fragment. Such fragments can be chosen basedon the ability to retain one or more of the biological activities of thevariant protein or the ability to perform a function, e.g., act as animmunogen. Particularly important fragments are biologically activefragments. Such fragments will typically comprise a domain or motif of avariant protein of the present invention, e.g., active site,transmembrane domain, or ligand/substrate binding domain. Otherfragments include, but are not limited to, domain or motif-containingfragments, soluble peptide fragments, and fragments containingimmunogenic structures. Predicted domains and functional sites arereadily identifiable by computer programs well known to those of skillin the art (e.g., PROSITE analysis). Current Protocols in ProteinScience, John Wiley & Sons, N.Y. (2002).

Uses of Variant Proteins

The variant proteins of the present invention can be used in a varietyof ways, including but not limited to, in assays to determine thebiological activity of a variant protein, such as in a panel of multipleproteins for high-throughput screening; to raise antibodies or to elicitanother type of immune response; as a reagent (including the labeledreagent) in assays designed to quantitatively determine levels of thevariant protein (or its binding partner) in biological fluids; as amarker for cells or tissues in which it is preferentially expressed(either constitutively or at a particular stage of tissuedifferentiation or development or in a disease state); as a target forscreening for a therapeutic agent; and as a direct therapeutic agent tobe administered into a human subject. Any of the variant proteinsdisclosed herein may be developed into reagent grade or kit format forcommercialization as research products. Methods for performing the useslisted above are well known to those skilled in the art. See, e.g.,Molecular Cloning: A Laboratory Manual, Sambrook and Russell, ColdSpring Harbor Laboratory Press, N.Y. (2000), and Methods in Enzymology:Guide to Molecular Cloning Techniques, S. L. Berger and A. R. Kimmel,eds., Academic Press (1987).

In a specific embodiment of the invention, the methods of the presentinvention include detection of one or more variant proteins disclosedherein. Variant proteins are disclosed in Table 1 and in the SequenceListing as SEQ ID NOS:17-32. Detection of such proteins can beaccomplished using, for example, antibodies, small molecule compounds,aptamers, ligands/substrates, other proteins or protein fragments, orother protein-binding agents. Preferably, protein detection agents arespecific for a variant protein of the present invention and cantherefore discriminate between a variant protein of the presentinvention and the wild-type protein or another variant form. This cangenerally be accomplished by, for example, selecting or designingdetection agents that bind to the region of a protein that differsbetween the variant and wild-type protein, such as a region of a proteinthat contains one or more amino acid substitutions that is/are encodedby a non-synonymous cSNP of the present invention, or a region of aprotein that follows a nonsense mutation-type SNP that creates a stopcodon thereby leading to a shorter polypeptide, or a region of a proteinthat follows a read-through mutation-type SNP that destroys a stop codonthereby leading to a longer polypeptide in which a portion of thepolypeptide is present in one version of the polypeptide but not theother.

In another specific aspect of the invention, the variant proteins of thepresent invention are used as targets for diagnosing or prognosingautoimmune disease or for determining predisposition to autoimmunedisease in a human, for treating and/or preventing autoimmune disease,or for predicting an individual's response to TNF inhibitor treatment(particularly treatment or prevention of autoimmune disease using TNFinhibitors), etc. Accordingly, the invention provides methods fordetecting the presence of, or levels of, one or more variant proteins ofthe present invention in a cell, tissue, or organism. Such methodstypically involve contacting a test sample with an agent (e.g., anantibody, small molecule compound, or peptide) capable of interactingwith the variant protein such that specific binding of the agent to thevariant protein can be detected. Such an assay can be provided in asingle detection format or a multi-detection format such as an array,for example, an antibody or aptamer array (arrays for protein detectionmay also be referred to as “protein chips”). The variant protein ofinterest can be isolated from a test sample and assayed for the presenceof a variant amino acid sequence encoded by one or more SNPs disclosedby the present invention. The SNPs may cause changes to the protein andthe corresponding protein function/activity, such as throughnon-synonymous substitutions in protein coding regions that can lead toamino acid substitutions, deletions, insertions, and/or rearrangements;formation or destruction of stop codons; or alteration of controlelements such as promoters. SNPs may also cause inappropriatepost-translational modifications.

One preferred agent for detecting a variant protein in a sample is anantibody capable of selectively binding to a variant form of the protein(antibodies are described in greater detail in the next section). Suchsamples include, for example, tissues, cells, and biological fluidsisolated from a subject, as well as tissues, cells and fluids presentwithin a subject.

In vitro methods for detection of the variant proteins associated withautoimmune disease that are disclosed herein and fragments thereofinclude, but are not limited to, enzyme linked immunosorbent assays(ELISAs), radioimmunoassays (RIA), Western blots, immunoprecipitations,immunofluorescence, and protein arrays/chips (e.g., arrays of antibodiesor aptamers). For further information regarding immunoassays and relatedprotein detection methods, see Current Protocols in Immunology, JohnWiley & Sons, N.Y., and Hage, “Immunoassays,” Anal Chem 15;71(12):294R-304R (June 1999).

Additional analytic methods of detecting amino acid variants include,but are not limited to, altered electrophoretic mobility, alteredtryptic peptide digest, altered protein activity in cell-based orcell-free assay, alteration in ligand or antibody-binding pattern,altered isoelectric point, and direct amino acid sequencing.

Alternatively, variant proteins can be detected in vivo in a subject byintroducing into the subject a labeled antibody (or other type ofdetection reagent) specific for a variant protein. For example, theantibody can be labeled with a radioactive marker whose presence andlocation in a subject can be detected by standard imaging techniques.

Other uses of the variant peptides of the present invention are based onthe class or action of the protein. For example, proteins isolated fromhumans and their mammalian orthologs serve as targets for identifyingagents (e.g., small molecule drugs or antibodies) for use in therapeuticapplications, particularly for modulating a biological or pathologicalresponse in a cell or tissue that expresses the protein. Pharmaceuticalagents can be developed that modulate protein activity.

As an alternative to modulating gene expression, therapeutic compoundscan be developed that modulate protein function. For example, many SNPsdisclosed herein affect the amino acid sequence of the encoded protein(e.g., non-synonymous cSNPs and nonsense mutation-type SNPs). Suchalterations in the encoded amino acid sequence may affect proteinfunction, particularly if such amino acid sequence variations occur infunctional protein domains, such as catalytic domains, ATP-bindingdomains, or ligand/substrate binding domains. It is well established inthe art that variant proteins having amino acid sequence variations infunctional domains can cause or influence pathological conditions. Insuch instances, compounds (e.g., small molecule drugs or antibodies) canbe developed that target the variant protein and modulate (e.g., up- ordown-regulate) protein function/activity.

The therapeutic methods of the present invention further include methodsthat target one or more variant proteins of the present invention.Variant proteins can be targeted using, for example, small moleculecompounds, antibodies, aptamers, ligands/substrates, other proteins, orother protein-binding agents. Additionally, the skilled artisan willrecognize that the novel protein variants (and polymorphic nucleic acidmolecules) disclosed in Table 1 may themselves be directly used astherapeutic agents by acting as competitive inhibitors of correspondingart-known proteins (or nucleic acid molecules such as mRNA molecules).

The variant proteins of the present invention are particularly useful indrug screening assays, in cell-based or cell-free systems. Cell-basedsystems can utilize cells that naturally express the protein, a biopsyspecimen, or cell cultures. In one embodiment, cell-based assays involverecombinant host cells expressing the variant protein. Cell-free assayscan be used to detect the ability of a compound to directly bind to avariant protein or to the corresponding SNP-containing nucleic acidfragment that encodes the variant protein.

A variant protein of the present invention, as well as appropriatefragments thereof, can be used in high-throughput screening assays totest candidate compounds for the ability to bind and/or modulate theactivity of the variant protein. These candidate compounds can befurther screened against a protein having normal function (e.g., awild-type/non-variant protein) to further determine the effect of thecompound on the protein activity. Furthermore, these compounds can betested in animal or invertebrate systems to determine in vivoactivity/effectiveness. Compounds can be identified that activate(agonists) or inactivate (antagonists) the variant protein, anddifferent compounds can be identified that cause various degrees ofactivation or inactivation of the variant protein.

Further, the variant proteins can be used to screen a compound for theability to stimulate or inhibit interaction between the variant proteinand a target molecule that normally interacts with the protein. Thetarget can be a ligand, a substrate or a binding partner that theprotein normally interacts with (for example, epinephrine ornorepinephrine). Such assays typically include the steps of combiningthe variant protein with a candidate compound under conditions thatallow the variant protein, or fragment thereof, to interact with thetarget molecule, and to detect the formation of a complex between theprotein and the target or to detect the biochemical consequence of theinteraction with the variant protein and the target, such as any of theassociated effects of signal transduction.

Candidate compounds include, for example, 1) peptides such as solublepeptides, including Ig-tailed fusion peptides and members of randompeptide libraries (see, e.g., Lam et al., Nature 354:82-84 (1991);Houghten et al., Nature 354:84-86 (1991)) and combinatorialchemistry-derived molecular libraries made of D- and/or L-configurationamino acids; 2) phosphopeptides (e.g., members of random and partiallydegenerate, directed phosphopeptide libraries, see, e.g., Songyang etal., Cell 72:767-778 (1993)); 3) antibodies (e.g., polyclonal,monoclonal, humanized, anti-idiotypic, chimeric, and single chainantibodies as well as Fab, F(ab′)₂, Fab expression library fragments,and epitope-binding fragments of antibodies); and 4) small organic andinorganic molecules (e.g., molecules obtained from combinatorial andnatural product libraries).

One candidate compound is a soluble fragment of the variant protein thatcompetes for ligand binding. Other candidate compounds include mutantproteins or appropriate fragments containing mutations that affectvariant protein function and thus compete for ligand. Accordingly, afragment that competes for ligand, for example with a higher affinity,or a fragment that binds ligand but does not allow release, isencompassed by the invention.

The invention further includes other end point assays to identifycompounds that modulate (stimulate or inhibit) variant protein activity.The assays typically involve an assay of events in the signaltransduction pathway that indicate protein activity. Thus, theexpression of genes that are up or down-regulated in response to thevariant protein dependent signal cascade can be assayed. In oneembodiment, the regulatory region of such genes can be operably linkedto a marker that is easily detectable, such as luciferase.Alternatively, phosphorylation of the variant protein, or a variantprotein target, could also be measured. Any of the biological orbiochemical functions mediated by the variant protein can be used as anendpoint assay. These include all of the biochemical or biologicalevents described herein, in the references cited herein, incorporated byreference for these endpoint assay targets, and other functions known tothose of ordinary skill in the art.

Binding and/or activating compounds can also be screened by usingchimeric variant proteins in which an amino terminal extracellulardomain or parts thereof, an entire transmembrane domain or subregions,and/or the carboxyl terminal intracellular domain or parts thereof, canbe replaced by heterologous domains or subregions. For example, asubstrate-binding region can be used that interacts with a differentsubstrate than that which is normally recognized by a variant protein.Accordingly, a different set of signal transduction components isavailable as an end-point assay for activation. This allows for assaysto be performed in other than the specific host cell from which thevariant protein is derived.

The variant proteins are also useful in competition binding assays inmethods designed to discover compounds that interact with the variantprotein. Thus, a compound can be exposed to a variant protein underconditions that allow the compound to bind or to otherwise interact withthe variant protein. A binding partner, such as ligand, that normallyinteracts with the variant protein is also added to the mixture. If thetest compound interacts with the variant protein or its binding partner,it decreases the amount of complex formed or activity from the variantprotein. This type of assay is particularly useful in screening forcompounds that interact with specific regions of the variant protein.Hodgson, Bio/technology, 10(9), 973-80 (September 1992).

To perform cell-free drug screening assays, it is sometimes desirable toimmobilize either the variant protein or a fragment thereof, or itstarget molecule, to facilitate separation of complexes from uncomplexedforms of one or both of the proteins, as well as to accommodateautomation of the assay. Any method for immobilizing proteins onmatrices can be used in drug screening assays. In one embodiment, afusion protein containing an added domain allows the protein to be boundto a matrix. For example, glutathione-S-transferase/¹²⁵I fusion proteinscan be adsorbed onto glutathione sepharose beads (Sigma Chemical, St.Louis, Mo.) or glutathione derivatized microtitre plates, which are thencombined with the cell lysates (e.g., ³⁵S-labeled) and a candidatecompound, such as a drug candidate, and the mixture incubated underconditions conducive to complex formation (e.g., at physiologicalconditions for salt and pH). Following incubation, the beads can bewashed to remove any unbound label, and the matrix immobilized andradiolabel determined directly, or in the supernatant after thecomplexes are dissociated. Alternatively, the complexes can bedissociated from the matrix, separated by SDS-PAGE, and the level ofbound material found in the bead fraction quantitated from the gel usingstandard electrophoretic techniques.

Either the variant protein or its target molecule can be immobilizedutilizing conjugation of biotin and streptavidin. Alternatively,antibodies reactive with the variant protein but which do not interferewith binding of the variant protein to its target molecule can bederivatized to the wells of the plate, and the variant protein trappedin the wells by antibody conjugation. Preparations of the targetmolecule and a candidate compound are incubated in the variantprotein-presenting wells and the amount of complex trapped in the wellcan be quantitated. Methods for detecting such complexes, in addition tothose described above for the GST-immobilized complexes, includeimmunodetection of complexes using antibodies reactive with the proteintarget molecule, or which are reactive with variant protein and competewith the target molecule, and enzyme-linked assays that rely ondetecting an enzymatic activity associated with the target molecule.

Modulators of variant protein activity identified according to thesedrug screening assays can be used to treat a subject with a disordermediated by the protein pathway, such as autoimmune disease. Thesemethods of treatment typically include the steps of administering themodulators of protein activity in a pharmaceutical composition to asubject in need of such treatment.

The variant proteins, or fragments thereof, disclosed herein canthemselves be directly used to treat a disorder characterized by anabsence of, inappropriate, or unwanted expression or activity of thevariant protein. Accordingly, methods for treatment include the use of avariant protein disclosed herein or fragments thereof.

In yet another aspect of the invention, variant proteins can be used as“bait proteins” in a two-hybrid assay or three-hybrid assay to identifyother proteins that bind to or interact with the variant protein and areinvolved in variant protein activity. See, e.g., U.S. Pat. No.5,283,317; Zervos et al., Cell 72:223-232 (1993); Madura et al., J BiolChem 268:12046-12054 (1993); Bartel et al., Biotechniques 14:920-924(1993); Iwabuchi et al., Oncogene 8:1693-1696 (1993); and Brent, WO94/10300. Such variant protein-binding proteins are also likely to beinvolved in the propagation of signals by the variant proteins orvariant protein targets as, for example, elements of a protein-mediatedsignaling pathway. Alternatively, such variant protein-binding proteinsare inhibitors of the variant protein.

The two-hybrid system is based on the modular nature of mosttranscription factors, which typically consist of separable DNA-bindingand activation domains. Briefly, the assay typically utilizes twodifferent DNA constructs. In one construct, the gene that codes for avariant protein is fused to a gene encoding the DNA binding domain of aknown transcription factor (e.g., GAL-4). In the other construct, a DNAsequence, from a library of DNA sequences, that encodes an unidentifiedprotein (“prey” or “sample”) is fused to a gene that codes for theactivation domain of the known transcription factor. If the “bait” andthe “prey” proteins are able to interact, in vivo, forming a variantprotein-dependent complex, the DNA-binding and activation domains of thetranscription factor are brought into close proximity. This proximityallows transcription of a reporter gene (e.g., LacZ) that is operablylinked to a transcriptional regulatory site responsive to thetranscription factor. Expression of the reporter gene can be detected,and cell colonies containing the functional transcription factor can beisolated and used to obtain the cloned gene that encodes the proteinthat interacts with the variant protein.

Antibodies Directed to Variant Proteins

The present invention also provides antibodies that selectively bind tothe variant proteins disclosed herein and fragments thereof. Suchantibodies may be used to quantitatively or qualitatively detect thevariant proteins of the present invention. As used herein, an antibodyselectively binds a target variant protein when it binds the variantprotein and does not significantly bind to non-variant proteins, i.e.,the antibody does not significantly bind to normal, wild-type, orart-known proteins that do not contain a variant amino acid sequence dueto one or more SNPs of the present invention (variant amino acidsequences may be due to, for example, nonsynonymous cSNPs, nonsense SNPsthat create a stop codon, thereby causing a truncation of a polypeptideor SNPs that cause read-through mutations resulting in an extension of apolypeptide).

As used herein, an antibody is defined in terms consistent with thatrecognized in the art: they are multi-subunit proteins produced by anorganism in response to an antigen challenge. The antibodies of thepresent invention include both monoclonal antibodies and polyclonalantibodies, as well as antigen-reactive proteolytic fragments of suchantibodies, such as Fab, F(ab)′₂, and Fv fragments. In addition, anantibody of the present invention further includes any of a variety ofengineered antigen-binding molecules such as a chimeric antibody (U.S.Pat. Nos. 4,816,567 and 4,816,397; Morrison et al., Proc Natl Acad SciUSA 81:6851 (1984); Neuberger et al., Nature 312:604 (1984)), ahumanized antibody (U.S. Pat. Nos. 5,693,762; 5,585,089 and 5,565,332),a single-chain Fv (U.S. Pat. No. 4,946,778; Ward et al., Nature 334:544(1989)), a bispecific antibody with two binding specificities (Segal etal., J Immunol Methods 248:1 (2001); Carter, J Immunol Methods 248:7(2001)), a diabody, a triabody, and a tetrabody (Todorovska et al., JImmunol Methods 248:47 (2001)), as well as a Fab conjugate (dimer ortrimer), and a minibody.

Many methods are known in the art for generating and/or identifyingantibodies to a given target antigen. Harlow, Antibodies, Cold SpringHarbor Press, N.Y. (1989). In general, an isolated peptide (e.g., avariant protein of the present invention) is used as an immunogen and isadministered to a mammalian organism, such as a rat, rabbit, hamster ormouse. Either a full-length protein, an antigenic peptide fragment(e.g., a peptide fragment containing a region that varies between avariant protein and a corresponding wild-type protein), or a fusionprotein can be used. A protein used as an immunogen may benaturally-occurring, synthetic or recombinantly produced, and may beadministered in combination with an adjuvant, including but not limitedto, Freund's (complete and incomplete), mineral gels such as aluminumhydroxide, surface active substance such as lysolecithin, pluronicpolyols, polyanions, peptides, oil emulsions, keyhole limpet hemocyanin,dinitrophenol, and the like.

Monoclonal antibodies can be produced by hybridoma technology, whichimmortalizes cells secreting a specific monoclonal antibody. Kohler andMilstein, Nature 256:495 (1975). The immortalized cell lines can becreated in vitro by fusing two different cell types, typicallylymphocytes, and tumor cells. The hybridoma cells may be cultivated invitro or in vivo. Additionally, fully human antibodies can be generatedby transgenic animals. He et al., J Immunol 169:595 (2002). Fd phage andFd phagemid technologies may be used to generate and select recombinantantibodies in vitro. Hoogenboom and Chames, Immunol Today 21:371 (2000);Liu et al., J Mol Biol 315:1063 (2002). The complementarity-determiningregions of an antibody can be identified, and synthetic peptidescorresponding to such regions may be used to mediate antigen binding.U.S. Pat. No. 5,637,677.

Antibodies are preferably prepared against regions or discrete fragmentsof a variant protein containing a variant amino acid sequence ascompared to the corresponding wild-type protein (e.g., a region of avariant protein that includes an amino acid encoded by a nonsynonymouscSNP, a region affected by truncation caused by a nonsense SNP thatcreates a stop codon, or a region resulting from the destruction of astop codon due to read-through mutation caused by a SNP). Furthermore,preferred regions will include those involved in function/activityand/or protein/binding partner interaction. Such fragments can beselected on a physical property, such as fragments corresponding toregions that are located on the surface of the protein, e.g.,hydrophilic regions, or can be selected based on sequence uniqueness, orbased on the position of the variant amino acid residue(s) encoded bythe SNPs provided by the present invention. An antigenic fragment willtypically comprise at least about 8-10 contiguous amino acid residues inwhich at least one of the amino acid residues is an amino acid affectedby a SNP disclosed herein. The antigenic peptide can comprise, however,at least 12, 14, 16, 20, 25, 50, 100 (or any other number in-between) ormore amino acid residues, provided that at least one amino acid isaffected by a SNP disclosed herein.

Detection of an antibody of the present invention can be facilitated bycoupling (i.e., physically linking) the antibody or an antigen-reactivefragment thereof to a detectable substance. Detectable substancesinclude, but are not limited to, various enzymes, prosthetic groups,fluorescent materials, luminescent materials, bioluminescent materials,and radioactive materials. Examples of suitable enzymes includehorseradish peroxidase, alkaline phosphatase, β-galactosidase, oracetylcholinesterase; examples of suitable prosthetic group complexesinclude streptavidin/biotin and avidin/biotin; examples of suitablefluorescent materials include umbelliferone, fluorescein, fluoresceinisothiocyanate, rhodamine, dichlorotriazinylamine fluorescein, dansylchloride or phycoerythrin; an example of a luminescent material includesluminol; examples of bioluminescent materials include luciferase,luciferin, and aequorin, and examples of suitable radioactive materialinclude ¹²⁵I, ¹³¹I, ³⁵S or ³H.

Antibodies, particularly the use of antibodies as therapeutic agents,are reviewed in: Morgan, “Antibody therapy for Alzheimer's disease,”Expert Rev Vaccines (1):53-9 (February 2003); Ross et al., “Anticancerantibodies,” Am J Clin Pathol 119(4):472-85 (April 2003); Goldenberg,“Advancing role of radiolabeled antibodies in the therapy of cancer,”Cancer Immunol Immunother 52(5):281-96 (May 2003); Epub Mar. 11, 2003;Ross et al., “Antibody-based therapeutics in oncology,” Expert RevAnticancer Ther 3(1):107-21 (February 2003); Cao et al., “Bispecificantibody conjugates in therapeutics,” Adv Drug Deliv Rev 55(2):171-97(February 2003); von Mehren et al., “Monoclonal antibody therapy forcancer,” Annu Rev Med 54:343-69 (2003); Epub Dec. 3, 2001; Hudson etal., “Engineered antibodies,” Nat Med 9(1):129-34 (January 2003); Brekkeet al., “Therapeutic antibodies for human diseases at the dawn of thetwenty-first century,” Nat Rev Drug Discov 2(1):52-62 (January 2003);Erratum in: Nat Rev Drug Discov 2(3):240 (March 2003); Houdebine,“Antibody manufacture in transgenic animals and comparisons with othersystems,” Curr Opin Biotechnol 13(6):625-9 (December 2002); Andreakos etal., “Monoclonal antibodies in immune and inflammatory diseases,” CurrOpin Biotechnol 13(6):615-20 (December 2002); Kellermann et al.,“Antibody discovery: the use of transgenic mice to generate humanmonoclonal antibodies for therapeutics,” Curr Opin Biotechnol13(6):593-7 (December 2002); Pini et al., “Phage display and colonyfilter screening for high-throughput selection of antibody libraries,”Comb Chem High Throughput Screen 5(7):503-10 (November 2002); Batra etal., “Pharmacokinetics and biodistribution of genetically engineeredantibodies,” Curr Opin Biotechnol 13(6):603-8 (December 2002); andTangri et al., “Rationally engineered proteins or antibodies with absentor reduced immunogenicity,” Curr Med Chem 9(24):2191-9 (December 2002).

Uses of Antibodies

Antibodies can be used to isolate the variant proteins of the presentinvention from a natural cell source or from recombinant host cells bystandard techniques, such as affinity chromatography orimmunoprecipitation. In addition, antibodies are useful for detectingthe presence of a variant protein of the present invention in cells ortissues to determine the pattern of expression of the variant proteinamong various tissues in an organism and over the course of normaldevelopment or disease progression. Further, antibodies can be used todetect variant protein in situ, in vitro, in a bodily fluid, or in acell lysate or supernatant in order to evaluate the amount and patternof expression. Also, antibodies can be used to assess abnormal tissuedistribution, abnormal expression during development, or expression inan abnormal condition, such as in autoimmune disease, or during TNFinhibitor treatment. Additionally, antibody detection of circulatingfragments of the full-length variant protein can be used to identifyturnover.

Antibodies to the variant proteins of the present invention are alsouseful in pharmacogenomic analysis. Thus, antibodies against variantproteins encoded by alternative SNP alleles can be used to identifyindividuals that require modified treatment modalities.

Further, antibodies can be used to assess expression of the variantprotein in disease states such as in active stages of the disease or inan individual with a predisposition to a disease related to theprotein's function, such as autoimmune disease, or during the course ofa treatment regime, such as during TNF inhibitor treatment. Antibodiesspecific for a variant protein encoded by a SNP-containing nucleic acidmolecule of the present invention can be used to assay for the presenceof the variant protein, such as to diagnose or prognose autoimmunedisease or to predict an individual's response to TNF inhibitortreatment or predisposition/susceptibility to autoimmune disease, asindicated by the presence of the variant protein.

Antibodies are also useful as diagnostic tools for evaluating thevariant proteins in conjunction with analysis by electrophoreticmobility, isoelectric point, tryptic peptide digest, and other physicalassays well known in the art.

Antibodies are also useful for tissue typing. Thus, where a specificvariant protein has been correlated with expression in a specifictissue, antibodies that are specific for this protein can be used toidentify a tissue type.

Antibodies can also be used to assess aberrant subcellular localizationof a variant protein in cells in various tissues. The diagnostic usescan be applied, not only in genetic testing, but also in monitoring atreatment modality. Accordingly, where treatment is ultimately aimed atcorrecting the expression level or the presence of variant protein oraberrant tissue distribution or developmental expression of a variantprotein, antibodies directed against the variant protein or relevantfragments can be used to monitor therapeutic efficacy.

The antibodies are also useful for inhibiting variant protein function,for example, by blocking the binding of a variant protein to a bindingpartner. These uses can also be applied in a therapeutic context inwhich treatment involves inhibiting a variant protein's function. Anantibody can be used, for example, to block or competitively inhibitbinding, thus modulating (agonizing or antagonizing) the activity of avariant protein. Antibodies can be prepared against specific variantprotein fragments containing sites required for function or against anintact variant protein that is associated with a cell or cell membrane.For in vivo administration, an antibody may be linked with an additionaltherapeutic payload such as a radionuclide, an enzyme, an immunogenicepitope, or a cytotoxic agent. Suitable cytotoxic agents include, butare not limited to, bacterial toxin such as diphtheria, and plant toxinsuch as ricin. The in vivo half-life of an antibody or a fragmentthereof may be lengthened by pegylation through conjugation topolyethylene glycol. Leong et al., Cytokine 16:106 (2001).

The invention also encompasses kits for using antibodies, such as kitsfor detecting the presence of a variant protein in a test sample. Anexemplary kit can comprise antibodies such as a labeled or labelableantibody and a compound or agent for detecting variant proteins in abiological sample; means for determining the amount, or presence/absenceof variant protein in the sample; means for comparing the amount ofvariant protein in the sample with a standard; and instructions for use.

Vectors and Host Cells

The present invention also provides vectors containing theSNP-containing nucleic acid molecules described herein. The term“vector” refers to a vehicle, preferably a nucleic acid molecule, whichcan transport a SNP-containing nucleic acid molecule. When the vector isa nucleic acid molecule, the SNP-containing nucleic acid molecule can becovalently linked to the vector nucleic acid. Such vectors include, butare not limited to, a plasmid, single or double stranded phage, a singleor double stranded RNA or DNA viral vector, or artificial chromosome,such as a BAC, PAC, YAC, or MAC.

A vector can be maintained in a host cell as an extrachromosomal elementwhere it replicates and produces additional copies of the SNP-containingnucleic acid molecules. Alternatively, the vector may integrate into thehost cell genome and produce additional copies of the SNP-containingnucleic acid molecules when the host cell replicates.

The invention provides vectors for the maintenance (cloning vectors) orvectors for expression (expression vectors) of the SNP-containingnucleic acid molecules. The vectors can function in prokaryotic oreukaryotic cells or in both (shuttle vectors).

Expression vectors typically contain cis-acting regulatory regions thatare operably linked in the vector to the SNP-containing nucleic acidmolecules such that transcription of the SNP-containing nucleic acidmolecules is allowed in a host cell. The SNP-containing nucleic acidmolecules can also be introduced into the host cell with a separatenucleic acid molecule capable of affecting transcription. Thus, thesecond nucleic acid molecule may provide a trans-acting factorinteracting with the cis-regulatory control region to allowtranscription of the SNP-containing nucleic acid molecules from thevector. Alternatively, a trans-acting factor may be supplied by the hostcell. Finally, a trans-acting factor can be produced from the vectoritself. It is understood, however, that in some embodiments,transcription and/or translation of the nucleic acid molecules can occurin a cell-free system.

The regulatory sequences to which the SNP-containing nucleic acidmolecules described herein can be operably linked include promoters fordirecting mRNA transcription. These include, but are not limited to, theleft promoter from bacteriophage λ, the lac, TRP, and TAC promoters fromE. coli, the early and late promoters from SV40, the CMV immediate earlypromoter, the adenovirus early and late promoters, and retroviruslong-terminal repeats.

In addition to control regions that promote transcription, expressionvectors may also include regions that modulate transcription, such asrepressor binding sites and enhancers. Examples include the SV40enhancer, the cytomegalovirus immediate early enhancer, polyomaenhancer, adenovirus enhancers, and retrovirus LTR enhancers.

In addition to containing sites for transcription initiation andcontrol, expression vectors can also contain sequences necessary fortranscription termination and, in the transcribed region, aribosome-binding site for translation. Other regulatory control elementsfor expression include initiation and termination codons as well aspolyadenylation signals. A person of ordinary skill in the art would beaware of the numerous regulatory sequences that are useful in expressionvectors. See, e.g., Sambrook and Russell, Molecular Cloning: ALaboratory Manual, Cold Spring Harbor Laboratory Press, N.Y. (2000).

A variety of expression vectors can be used to express a SNP-containingnucleic acid molecule. Such vectors include chromosomal, episomal, andvirus-derived vectors, for example, vectors derived from bacterialplasmids, from bacteriophage, from yeast episomes, from yeastchromosomal elements, including yeast artificial chromosomes, fromviruses such as baculoviruses, papovaviruses such as SV40, Vacciniaviruses, adenoviruses, poxviruses, pseudorabies viruses, andretroviruses. Vectors can also be derived from combinations of thesesources such as those derived from plasmid and bacteriophage geneticelements, e.g., cosmids and phagemids. Appropriate cloning andexpression vectors for prokaryotic and eukaryotic hosts are described inSambrook and Russell, Molecular Cloning: A Laboratory Manual, ColdSpring Harbor Laboratory Press, N.Y. (2000).

The regulatory sequence in a vector may provide constitutive expressionin one or more host cells (e.g., tissue specific expression) or mayprovide for inducible expression in one or more cell types such as bytemperature, nutrient additive, or exogenous factor, e.g., a hormone orother ligand. A variety of vectors that provide constitutive orinducible expression of a nucleic acid sequence in prokaryotic andeukaryotic host cells are well known to those of ordinary skill in theart.

A SNP-containing nucleic acid molecule can be inserted into the vectorby methodology well-known in the art. Generally, the SNP-containingnucleic acid molecule that will ultimately be expressed is joined to anexpression vector by cleaving the SNP-containing nucleic acid moleculeand the expression vector with one or more restriction enzymes and thenligating the fragments together. Procedures for restriction enzymedigestion and ligation are well known to those of ordinary skill in theart.

The vector containing the appropriate nucleic acid molecule can beintroduced into an appropriate host cell for propagation or expressionusing well-known techniques. Bacterial host cells include, but are notlimited to, Escherichia coli, Streptomyces spp., and Salmonellatyphimurium. Eukaryotic host cells include, but are not limited to,yeast, insect cells such as Drosophila spp., animal cells such as COSand CHO cells, and plant cells.

As described herein, it may be desirable to express the variant peptideas a fusion protein. Accordingly, the invention provides fusion vectorsthat allow for the production of the variant peptides. Fusion vectorscan, for example, increase the expression of a recombinant protein,increase the solubility of the recombinant protein, and aid in thepurification of the protein by acting, for example, as a ligand foraffinity purification. A proteolytic cleavage site may be introduced atthe junction of the fusion moiety so that the desired variant peptidecan ultimately be separated from the fusion moiety. Proteolytic enzymessuitable for such use include, but are not limited to, factor Xa,thrombin, and enterokinase. Typical fusion expression vectors includepGEX (Smith et al., Gene 67:31-40 (1988)), pMAL (New England Biolabs,Beverly, Mass.) and pRIT5 (Pharmacia, Piscataway, N.J.) which fuseglutathione S-transferase (GST), maltose E binding protein, or proteinA, respectively, to the target recombinant protein. Examples of suitableinducible non-fusion E. coli expression vectors include pTrc (Amann etal., Gene 69:301-315 (1988)) and pET 11d (Studier et al., GeneExpression Technology: Methods in Enzymology 185:60-89 (1990)).

Recombinant protein expression can be maximized in a bacterial host byproviding a genetic background wherein the host cell has an impairedcapacity to proteolytically cleave the recombinant protein (S.Gottesman, Gene Expression Technology: Methods in Enzymology185:119-128, Academic Press, Calif. (1990)). Alternatively, the sequenceof the SNP-containing nucleic acid molecule of interest can be alteredto provide preferential codon usage for a specific host cell, forexample, E. coli. Wada et al., Nucleic Acids Res 20:2111-2118 (1992).

The SNP-containing nucleic acid molecules can also be expressed byexpression vectors that are operative in yeast. Examples of vectors forexpression in yeast (e.g., S. cerevisiae) include pYepSec 1 (Baldari etal., EMBO J. 6:229-234 (1987)), pMFa (Kurjan et al., Cell 30:933-943(1982)), pJRY88 (Schultz et al., Gene 54:113-123 (1987)), and pYES2(Invitrogen Corporation, San Diego, Calif.).

The SNP-containing nucleic acid molecules can also be expressed ininsect cells using, for example, baculovirus expression vectors.Baculovirus vectors available for expression of proteins in culturedinsect cells (e.g., Sf 9 cells) include the pAc series (Smith et al.,Mol Cell Biol 3:2156-2165 (1983)) and the pVL series (Lucklow et al.,Virology 170:31-39 (1989)).

In certain embodiments of the invention, the SNP-containing nucleic acidmolecules described herein are expressed in mammalian cells usingmammalian expression vectors. Examples of mammalian expression vectorsinclude pCDM8 (B. Seed, Nature 329:840 (1987)) and pMT2PC (Kaufman etal., EMBO J. 6:187-195 (1987)).

The invention also encompasses vectors in which the SNP-containingnucleic acid molecules described herein are cloned into the vector inreverse orientation, but operably linked to a regulatory sequence thatpermits transcription of antisense RNA. Thus, an antisense transcriptcan be produced to the SNP-containing nucleic acid sequences describedherein, including both coding and non-coding regions. Expression of thisantisense RNA is subject to each of the parameters described above inrelation to expression of the sense RNA (regulatory sequences,constitutive or inducible expression, tissue-specific expression).

The invention also relates to recombinant host cells containing thevectors described herein. Host cells therefore include, for example,prokaryotic cells, lower eukaryotic cells such as yeast, othereukaryotic cells such as insect cells, and higher eukaryotic cells suchas mammalian cells.

The recombinant host cells can be prepared by introducing the vectorconstructs described herein into the cells by techniques readilyavailable to persons of ordinary skill in the art. These include, butare not limited to, calcium phosphate transfection,DEAE-dextran-mediated transfection, cationic lipid-mediatedtransfection, electroporation, transduction, infection, lipofection, andother techniques such as those described in Sambrook and Russell,Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory,Cold Spring Harbor Laboratory Press, N.Y. (2000).

Host cells can contain more than one vector. Thus, differentSNP-containing nucleotide sequences can be introduced in differentvectors into the same cell. Similarly, the SNP-containing nucleic acidmolecules can be introduced either alone or with other nucleic acidmolecules that are not related to the SNP-containing nucleic acidmolecules, such as those providing trans-acting factors for expressionvectors. When more than one vector is introduced into a cell, thevectors can be introduced independently, co-introduced, or joined to thenucleic acid molecule vector.

In the case of bacteriophage and viral vectors, these can be introducedinto cells as packaged or encapsulated virus by standard procedures forinfection and transduction. Viral vectors can be replication-competentor replication-defective. In the case in which viral replication isdefective, replication can occur in host cells that provide functionsthat complement the defects.

Vectors generally include selectable markers that enable the selectionof the subpopulation of cells that contain the recombinant vectorconstructs. The marker can be inserted in the same vector that containsthe SNP-containing nucleic acid molecules described herein or may be ina separate vector. Markers include, for example, tetracycline orampicillin-resistance genes for prokaryotic host cells, anddihydrofolate reductase or neomycin resistance genes for eukaryotic hostcells. However, any marker that provides selection for a phenotypictrait can be effective.

While the mature variant proteins can be produced in bacteria, yeast,mammalian cells, and other cells under the control of the appropriateregulatory sequences, cell-free transcription and translation systemscan also be used to produce these variant proteins using RNA derivedfrom the DNA constructs described herein.

Where secretion of the variant protein is desired, which is difficult toachieve with multi-transmembrane domain containing proteins such asG-protein-coupled receptors (GPCRs), appropriate secretion signals canbe incorporated into the vector. The signal sequence can be endogenousto the peptides or heterologous to these peptides.

Where the variant protein is not secreted into the medium, the proteincan be isolated from the host cell by standard disruption procedures,including freeze/thaw, sonication, mechanical disruption, use of lysingagents, and the like. The variant protein can then be recovered andpurified by well-known purification methods including, for example,ammonium sulfate precipitation, acid extraction, anion or cationicexchange chromatography, phosphocellulose chromatography,hydrophobic-interaction chromatography, affinity chromatography,hydroxylapatite chromatography, lectin chromatography, or highperformance liquid chromatography.

It is also understood that, depending upon the host cell in whichrecombinant production of the variant proteins described herein occurs,they can have various glycosylation patterns, or may benon-glycosylated, as when produced in bacteria. In addition, the variantproteins may include an initial modified methionine in some cases as aresult of a host-mediated process.

For further information regarding vectors and host cells, see CurrentProtocols in Molecular Biology, John Wiley & Sons, N.Y.

Uses of Vectors and Host Cells, and Transgenic Animals

Recombinant host cells that express the variant proteins describedherein have a variety of uses. For example, the cells are useful forproducing a variant protein that can be further purified into apreparation of desired amounts of the variant protein or fragmentsthereof. Thus, host cells containing expression vectors are useful forvariant protein production.

Host cells are also useful for conducting cell-based assays involvingthe variant protein or variant protein fragments, such as thosedescribed above as well as other formats known in the art. Thus, arecombinant host cell expressing a variant protein is useful forassaying compounds that stimulate or inhibit variant protein function.Such an ability of a compound to modulate variant protein function maynot be apparent from assays of the compound on the native/wild-typeprotein, or from cell-free assays of the compound. Recombinant hostcells are also useful for assaying functional alterations in the variantproteins as compared with a known function.

Genetically-engineered host cells can be further used to producenon-human transgenic animals. A transgenic animal is preferably anon-human mammal, for example, a rodent, such as a rat or mouse, inwhich one or more of the cells of the animal include a transgene. Atransgene is exogenous DNA containing a SNP of the present inventionwhich is integrated into the genome of a cell from which a transgenicanimal develops and which remains in the genome of the mature animal inone or more of its cell types or tissues. Such animals are useful forstudying the function of a variant protein in vivo, and identifying andevaluating modulators of variant protein activity. Other examples oftransgenic animals include, but are not limited to, non-human primates,sheep, dogs, cows, goats, chickens, and amphibians. Transgenic non-humanmammals such as cows and goats can be used to produce variant proteinswhich can be secreted in the animal's milk and then recovered.

A transgenic animal can be produced by introducing a SNP-containingnucleic acid molecule into the male pronuclei of a fertilized oocyte,e.g., by microinjection or retroviral infection, and allowing the oocyteto develop in a pseudopregnant female foster animal. Any nucleic acidmolecules that contain one or more SNPs of the present invention canpotentially be introduced as a transgene into the genome of a non-humananimal.

Any of the regulatory or other sequences useful in expression vectorscan form part of the transgenic sequence. This includes intronicsequences and polyadenylation signals, if not already included. Atissue-specific regulatory sequence(s) can be operably linked to thetransgene to direct expression of the variant protein in particularcells or tissues.

Methods for generating transgenic animals via embryo manipulation andmicroinjection, particularly animals such as mice, have becomeconventional in the art and are described, for example, in U.S. Pat.Nos. 4,736,866 and 4,870,009, both by Leder et al.; U.S. Pat. No.4,873,191 by Wagner et al., and in B. Hogan, Manipulating the MouseEmbryo, Cold Spring Harbor Laboratory Press, N.Y. (1986). Similarmethods are used for production of other transgenic animals. Atransgenic founder animal can be identified based upon the presence ofthe transgene in its genome and/or expression of transgenic mRNA intissues or cells of the animals. A transgenic founder animal can then beused to breed additional animals carrying the transgene. Moreover,transgenic animals carrying a transgene can further be bred to othertransgenic animals carrying other transgenes. A transgenic animal alsoincludes a non-human animal in which the entire animal or tissues in theanimal have been produced using the homologously recombinant host cellsdescribed herein.

In another embodiment, transgenic non-human animals can be producedwhich contain selected systems that allow for regulated expression ofthe transgene. One example of such a system is the cre/loxP recombinasesystem of bacteriophage P1. Lakso et al., PNAS 89:6232-6236 (1992).Another example of a recombinase system is the FLP recombinase system ofS. cerevisiae. O'Gorman et al., Science 251:1351-1355 (1991). If acre/loxP recombinase system is used to regulate expression of thetransgene, animals containing transgenes encoding both the Crerecombinase and a selected protein are generally needed. Such animalscan be provided through the construction of “double” transgenic animals,e.g., by mating two transgenic animals, one containing a transgeneencoding a selected variant protein and the other containing a transgeneencoding a recombinase.

Clones of the non-human transgenic animals described herein can also beproduced according to the methods described, for example, in I. Wilmutet al., Nature 385:810-813 (1997) and PCT International Publication Nos.WO 97/07668 and WO 97/07669. In brief, a cell (e.g., a somatic cell)from the transgenic animal can be isolated and induced to exit thegrowth cycle and enter G_(o) phase. The quiescent cell can then befused, e.g., through the use of electrical pulses, to an enucleatedoocyte from an animal of the same species from which the quiescent cellis isolated. The reconstructed oocyte is then cultured such that itdevelops to morula or blastocyst and then transferred to pseudopregnantfemale foster animal. The offspring born of this female foster animalwill be a clone of the animal from which the cell (e.g., a somatic cell)is isolated.

Transgenic animals containing recombinant cells that express the variantproteins described herein are useful for conducting the assays describedherein in an in vivo context. Accordingly, the various physiologicalfactors that are present in vivo and that could influence ligand orsubstrate binding, variant protein activation, signal transduction, orother processes or interactions, may not be evident from in vitrocell-free or cell-based assays. Thus, non-human transgenic animals ofthe present invention may be used to assay in vivo variant proteinfunction as well as the activities of a therapeutic agent or compoundthat modulates variant protein function/activity or expression. Suchanimals are also suitable for assessing the effects of null mutations(i.e., mutations that substantially or completely eliminate one or morevariant protein functions).

For further information regarding transgenic animals, see Houdebine,“Antibody manufacture in transgenic animals and comparisons with othersystems,” Curr Opin Biotechnol 13(6):625-9 (December 2002); Petters etal., “Transgenic animals as models for human disease,” Transgenic Res9(4-5):347-51, discussion 345-6 (2000); Wolf et al., “Use of transgenicanimals in understanding molecular mechanisms of toxicity,” J PharmPharmacol 50(6):567-74 (June 1998); Echelard, “Recombinant proteinproduction in transgenic animals,” Curr Opin Biotechnol 7(5):536-40(October 1996); Houdebine, “Transgenic animal bioreactors,” TransgenicRes 9(4-5):305-20 (2000); Pirity et al., “Embryonic stem cells, creatingtransgenic animals,” Methods Cell Biol 57:279-93 (1998); and Robl etal., “Artificial chromosome vectors and expression of complex proteinsin transgenic animals,” Theriogenology 59(1):107-13 (January 2003).

EXAMPLES

The following examples are offered to illustrate, but not limit, theclaimed invention.

Example 1 Analysis of SNPS associated with rheumatoid arthritis Overview

A multi-tiered, case-control association study was carried out in which25,966 putative functional SNPs were genotyped in 475 white NorthAmerican RA patients and 475 matched controls. Significant markers weregenotyped in two additional, independent, white case-control sample sets(661 cases/1322 controls from North America and 596 cases/705 controlsfrom The Netherlands). A SNP, rs1953126, on chromosome 9q33.2 wasidentified that was significantly associated with RA (OR_(common)=1.28,trend P_(comb)=1.45E-06). Through a comprehensive fine-scale-mappingSNP-selection procedure, 137 additional SNPs in a 668 kb region fromMEGF9 to STOM on 9q33.2 were chosen for follow-up genotyping in astaged-approach. Significant single marker results (P_(comb)<0.01)spanned a large 525 kb region from FBXW2 to GSN. However, a variety ofanalyses identified SNPs in a 70 kb region extending from the 5′ end ofPHF19 across TRAF1 into the TRAF1-05 intergenic region, but excludingthe C5 coding region, as the most significant (trend P_(comb):1.45E-06→5.41E-09). The observed association patterns for these SNPs hadheightened statistical significance and a higher degree of consistencyacross sample sets. In addition, the allele frequencies for these SNPsdisplayed reduced variability between control groups when compared toother SNPs. Furthermore, in combination with the other two known geneticrisk factors, HLA-DRB1 and PTPN22, the variants reported here generatemore than a 45-fold RA-risk differential.

Thus, variants in the PHF19-TRAF1-05 region on chromosome 9q33.2 aredisclosed herein that show strong and consistent association acrossthree independent RA case-control studies (1732 cases/2502 controls).Combining genetic information from HLA, PTPN22 and TRAF1 variants, theposterior probability of RA was calculated for every possible genotypecombination. These variants have utilities for such uses asindividualized prognosis and targeted medicine.

See Chang et al., “A large-scale rheumatoid arthritis genetic studyidentifies association at chromosome 9q33.2”, PLoS Genet. 2008 Jun. 27;4(6):e1000107, incorporated herein by reference in its entirety.

Results

Identification of the RA-Associated Chr9q33.2-Region

Three sequential case-control studies were conducted to identify SNPsassociated with RA. In the first study, DNA samples from white NorthAmericans with (N=475 cases) and without (N=475 controls) RA (sample set1, see Table 8 for a breakdown of the clinical characteristics of eachsample set) were genotyped for a set of 25,966 gene-centric SNPsutilizing disease-phenotype-based pooled DNA samples (pooled DNA sampleswere used to increase genotyping throughput while minimizing DNAconsumption). The allele frequency of each SNP was determined in casesand controls as described in the “Materials and Methods” section ofExample 1 below and 1438 SNPs were significantly associated with RAusing an allelic test (P<0.05); 88 of these SNPs mapped to chr 6p21between HLA-F and HLA-DPB1 within the major histocompatibility complex(MHC). Of the 1350 non-MHC SNPs, 1306 were evaluated in a secondindependent white North American sample set (661 cases and 1322controls) by use of a similar pooling strategy (44 SNPs were notgenotyped due to insufficient primer quantities). Eighty-ninestatistically compelling SNPs (P_(allelic)<0.05) with the same riskallele in these two sample sets were then individually genotyped insample set 1 to verify the results from the pooled DNA phase of theexperiment; 55 SNPs retained statistical significance (P_(allelic)<0.05)and 44 have been individually genotyped in sample set 2. Twenty-eight ofthese were significant (P_(allelic)<0.05) and are currently beingevaluated in a third independent white Dutch sample set (596 cases and705 controls).

The most significant non-MHC SNP to emerge from a combined analysis ofsample sets 1 and 2 after the PTPN22 missense SNP, rs2476601 [9], wasrs1953126, which is an intergenic SNP located 1 kb upstream of the humanhomologue to the Drosophila polycomblike protein-encoding gene, PHF19,on chr 9q33.2 near two candidate genes, TRAF1 and C5 (individualgenotyping: Sample Set 1: OR=1.30, 95% CI 1.08-1.58, trend P=0.007;Sample Set 2: OR=1.35, 95% CI 1.18-1.56, trend P=1.69E-05). This SNP wasalso genotyped in sample set 3 (association: OR=1.16, 95% CI 0.99-1.36,trend P=0.066) (Tables 5-7). No significant deviations fromHardy-Weinberg equilibrium were observed for the genotypes of this SNPin the cases or controls in the three sample sets. The frequency of theminor allele was approximately 30.8% in white North American controlsand increasing to 37.3% in white North American cases, and 34.9% inDutch controls and increasing to 38.3% in Dutch cases. A combinedanalysis across all three sample sets was highly significant (OR=1.28,95% CI 1.16-1.40, trend P_(comb)=1.45E-06).

Chr 9q33.2 Fine-Mapping and LD Analyses

To further explore the association signal in this region, patterns of LDfrom the CEU HapMap data [36] were used to define a broad 668 kb region,extending from MEGF9 to STOM on chr9q33.2, for follow-up individualgenotyping. Postulating two different disease models, one where theoriginally identified SNP, rs1953126, was in LD with one or morecausative SNPs and a second model of allelic heterogeneity where severalalleles at a locus independently predispose individuals to disease, acombination of 137 LD and tagging SNPs were selected from this regionfor follow-up genotyping in Sample Set 1 (a detailed description of SNPselection is outlined in the “Materials and Methods” section of Example1 below). Only four SNPs, all in the RAB14-GSN-STOM region, were mildlyout of Hardy-Weinberg equilibrium (10⁻⁴<P<0.01) in the controls (Tables5-7). Including the original SNP, rs1953126, 38 of the 138chr9q33.2-region SNPs genotyped in Sample Set 1 were significant at the0.01 level.

To better understand these positive signals and select a subset ofinformative SNPs for genotyping in the other sample sets, the LDarchitecture around rs1953126 was investigated by calculating pairwiser² values for all 138 SNPs genotyped in Sample Set 1. Evaluating casesand controls separately revealed very similar LD patterns between bothgroups across this region. There were two primary haplotype blocks (LDBlock 1 and LD Block 2) (here an LD block is defined as a region inwhich over 75% of all pairwise r² LD correlation values exceeded 0.3),with moderate LD between pairs of SNPs residing within each of the twoblocks. LD Block 1, which contains the original SNP, rs1953126, and isapproximately 70 kb, extends from rs10985070, an intronic SNP in the 5′end of PHF19, across TRAF1 into the TRAF1-05 intergenic region tors2900180. Approximately 214 kb in length, LD Block 2 ranges from themiddle of C5 to the RAB14-GSN intergenic region. Given that haplotypeblock structures can have complex LD patterns within and between blocksand that a single associated SNP in this region (rs1953126) was focusedon, a higher resolution plot was generated (not shown) where pairwise r²values were calculated for rs1953126 and each of the remaining 137 SNPs,which revealed groups of highly correlated SNPs not readily visible inthe LD heat-map.

Integrating the Sample Set 1 association results with the LD measures,it was found that the original SNP, rs1953126, was highly correlated(r²>0.95) with 17 other SNPs in LD Block 1. These 17 other “Group 1”SNPs in LD Block 1 (in addition to rs1953126) are as follows: rs1609810,rs7034390, rs2270231, rs881375, rs6478486, rs1860824, rs10435844,rs2239657, rs2239658, rs2416805, rs876445, rs7021206, rs1014529,rs1930781, rs2416806, rs7864019, and rs2900180 (additionally, thefollowing SNPs, all of which lie in LD Block 1 between rs10985070 andrs2900180, were not genotyped but highly correlated (r²>0.90) with Group1 SNPs in the CEU HapMap data: rs1930778, rs10760121, rs1468671,rs7046108, rs10435843, rs758959, rs2109895, rs1930780, rs10739580,rs10733648, and rs7039505). These 18 SNPs (the 17 SNPs above plusrs1953126) have similar association results increasing in frequency fromapproximately 30-31% in controls to 36-37% in cases (OR=1.29-1.35, trendP-0.002-0.009) (Tables 5-7). It was observed that 20 non-Group 1 SNPswere associated with disease at equal or greater significance including14 other SNPs from LD Block 1. Thirteen of these other LD Block 1 SNPs,which were highly correlated with one another (r²>0.95) and reasonablycorrelated with the Group 1 SNPs (r²=0.66-0.72), had minor allelefrequencies of approximately 38% in controls, increasing to 46% in cases(OR=1.34-1.39, trend P<0.002). These 13 “Group 2” SNPs are as follows:rs10985070, rs10985073, rs10818482, rs2072438, rs10760126, rs4836834,rs2416804, rs10118357, rs7021049, rs1930782, rs3761846, rs10760130, andrs10818488 (additionally, the following SNPs, all of which lie in LDBlock 1 between rs10985070 and rs2900180, were not genotyped but highlycorrelated (r²>0.90) with Group 2 SNPs in the CEU HapMap data:rs2269060, rs7037195, rs1014530, rs3761847, and rs10760129). Thefourteenth significant SNP in LD Block 1, rs7021880, a TRAF1 intronicSNP, was also highly significant (OR=1.43, trend P=3.12E-04), increasingin frequency from 27.1% in controls to 34.7% in cases. This SNP was inLD with both the Group 1 (r²=0.82-0.90) and the Group 2 SNPs(r²=0.59-0.64) SNPs. The six other SNPs with P values <0.01 lie upstreamof LD Block 1 (n=4) or downstream of LD Block 2 in GSN (n=2) (Tables5-7). The PSMD5 intronic SNP, rs10760117, was particularly significantamong these six SNPs.

Given the association results and the LD structure, 72 of the 137fine-scale mapping SNPs were selected to genotype in Sample Set 2 (661white North American RA patients and 1322 matched white North Americancontrols) (Tables 5-7). This subset of fine-scale mapping SNPs waschosen to reduce the genotyping load, while capturing the associationsignals and retaining full coverage of the genetic variation in thisregion. Two of these 72 SNPs, rs12683062 (in CEP110) in the cases andrs9409230 (a RAB14-GSN intergenic SNP) in the controls, were moderatelyout of Hardy-Weinberg equilibrium (P=2.56E-04 and P=0.003, respectively;Tables 5-7). Including the original SNP, rs1953126, 23 of these 72 SNPswere significant (trend P<0.01) in Sample Set 2; however, the ninesignificant LD Block 1 SNPs in Sample Set 1 were the most significant,replicated SNPs in Sample Set 2. There were three SNPs in GSN(rs10985196, rs7046030 and rs12683459), all highly correlated withpairwise r² values >0.90, which were highly significant (trend P<10⁻⁶)in Sample Set 2 (Sample Set 1: trend P=0.01-0.05).

Forty-two SNPs were genotyped in Sample Set 3 (596 white Dutch RApatients and 705 white Dutch controls); none of these SNPs rejected HWEat the P<0.01 significance level (Tables 5-7). These 42 SNPs span over600 kb and were selected to cover genetic variability, associationpatterns and gene boundaries. Four of the 42 SNPs, spanning 286 kb fromTRAF1 to RAB14, were significant at the 0.01 level. Of these four, twoSNPs (rs4836834 and rs7021049) were members of Group 2 from LD Block 1,perfectly correlated (r²=1), and both SNPs were highly significant inall three sample sets. The six Group 1 SNPs genotyped in Sample Set 3were close to the 0.05 significance level, with the most significant ofthese being the synonymous P340P TRAF1 SNP, rs2239657 and the TRAF1-05intergenic SNP, rs2900180 (trend P=0.052) (Tables 5-7) (for the TRAF1intronic SNP, rs7021880, trend P=0.102 in this sample set).

In a combined analysis of the 43 SNPs genotyped in all three samplesets, including the original SNP, rs1953126, 20 SNPs, spanning a regionof over 525 kb from rs7026635 within FBXW2 to rs10818527 within GSN,were significantly associated with RA (trend P_(comb)<0.01) (Table 9).Several of these SNPs exhibited consistent and strong association acrossall three sample sets (Tables 5-7). Using either a combined trend orgenotypic P-value, the top-ranked five SNPs were: rs6478486, rs4836834,rs2239657, rs7021880 and rs7021049 (listed in order of position). Allreside within or near TRAF1 in LD Block 1, had common odds ratios ofapproximately 1.3, and were highly significant (trend P_(comb)<1.5E-07)(Table 9).

Multiple Testing

Since false-positive results can be problematic in any large-scaleexperiment in which modest nominal significance levels are used, theresults from the combined analysis were corrected for multiple testingusing the method of Dunn-Sidak [37]. Seven SNPS, all within LD Block 1,survived a Dunn-Sidak correction for 25,966 SNPs at P<0.01. Thecorrected trend P_(comb) values for the five most significant SNPs were:0.003 for rs6478486 and 0.004 for rs223957 (Group 1), 0.002 forrs4836834 and 0.001 for rs7021049 (Group 2), and 1.4E-04 for rs7021880.

Haplotype Sliding Window

Given that the fine-scale-mapping SNPs cluster into various groups basedon their pairwise r² values and that under many models haplotypes can bemore informative than single-markers [38], the Haplo-Stats package [39]was used to run a 5-SNP sliding-window haplotype association analysis onthe 43 SNPs genotyped in all three sample sets separately for eachsample set and then the statistical evidence was combined across allthree sample sets. The combined analysis revealed a 29 kb-wide maximumpeak of global association for haplotypes comprised of allelessegregating at rs6478486-rs4836834-rs2239657-rs7021880-rs7021049 in LDBlock 1 (P_(comb)=4.15E-08). This region ranges from 9 kb downstream ofTRAF1 in the PHF19-TRAF1 intergenic region to intron 3 within TRAF1. Thedisease association evidence for this PHF19-TRAF1 region wasparticularly strong. Aside from this peak and a second highlysignificant peak in the TRAF1 region (P_(comb)=5.45E-08;rs2239657-rs7021880-rs7021049-rs2900180-rs2269066), a second region ofsignificance was centered over the RAB14-GSN region (P=2.11E-06).

Haplotype Analyses of LD Block 1 Variants

The single marker and sliding window haplotype analyses pointed to LDBlock 1 as harboring RA-associated SNPs. The TRAF1 intronic SNP,rs7021880, was the most significant SNP in Sample Sets 1 (trendP=3.12E-04) and 2 (trend P=5.09E-07) and in the combined analysis (trendP_(comb)=5.41E-09) (in the Dutch sample set, trend P=0.102). In theDutch sample set, the Group 2 SNPs, rs4836834 and rs7021049, were themost significant (trend P=0.004 and 0.006, respectively) (Tables 5-7 and9). These Group 2 SNPs ranked second in significance in Sample Set 1 andin the combined analysis while in Sample Set 2 they ranked third behindrs7021880 and the Group 1 SNPs.

Given these results, the haplotype structure of LD Block 1 was analyzedusing a subset of the nine SNPs from this region genotyped in all threestudies. Taking into account the LD structure, the following three SNPswere selected for these analyses: rs2239657, the P340P TRAF1 synonymouspolymorphism (to represent the six Group 1 SNPs); rs7021049, a TRAF1intronic SNP (to represent the two Group 2 SNPs); and rs7021880.Haplotype frequencies for these three SNPs were estimated using theHaplo.Stats package [39], revealing the same four common haplotypes ineach study (Table 10). Two of these haplotypes, AGT and GCG, werestrongly associated with disease (P_(comb)=3.08E-08 and 8.00E-09,respectively), with the former being protective—decreasing in frequencyfrom ˜60.9% in North American controls to 53.8% in North American casesand 56.7% in Dutch controls to 51.2% in Dutch cases (OR_(common)=0.76,95% CI 0.70-0.83); and the latter being susceptible—increasing from27.0% in North American controls to 34.7% in North American cases andfrom 33.2% in Dutch controls to 36.0% in Dutch cases (OR_(common)=1.32,95% CI 1.211.45). These haplotype P_(comb)-values were not significantlydifferent from those calculated for the individual SNPs (Table 9).

Dosage Effects

To explore the effect of the number of copies of each haplotype at thesethree sites (rs2239657, rs7021880 and rs7021049) along with anydominant/recessive effects between haplotypes, diplotypes were estimatedusing the pseudo-Gibbs sampling algorithm from the program SNPAnalyzer[40]. Analyzing the diplotypes individually, two diplotype combinationsachieved statistical significance (P<0.01) when compared to all otherdiplotypes (Table 11). The AGT/AGT diplotype was strongly associatedwith protection against RA (P_(comb)=5.35E-07; OR_(common)=0.68, 95% CI0.59-0.78), whereas the less frequent GCG/GCG diplotype was associatedwith predisposition (P_(comb)=0.005; OR_(common)=1.42, 95% CI1.16-1.75).

Assuming a disease prevalence of 1%, the relative risk of RA wascalculated in those individuals carrying two copies of the protectiveAGT haplotype compared to those without the AGT haplotype(RR_(2 copies AGT)=0.77). This homozygous relative risk wassubstantially reduced from the relative risk calculated from individualscarrying only one copy of the AGT haplotype (RR_(1 copy AGT)=1.06.).Similarly, the relative risks for the susceptible GCG haplotype wereestimated (RR_(2 copies GCG)=1.38; RR_(1 copy GCG)=1.15).

Genetic Background-Conditioned Results

A collection of 749 SNPs informative for European substructure was usedto stratify both the cases and controls in Sample Set 2 [41]. Bypartitioning cases and controls into similar genetic background groups(“Northern European” or “Other”), the aim was to interrogate the datafor strata-specific effects—that is, whether or not association signalswere specific to one of these genetic background groups—and avoidpotential confounding by population stratification. Although two SNPsdemonstrated moderately higher significance levels followingstratification—rs16910233 in C5 (P_(North)=0.019 compared toP_(Unstrat)=0.147) and rs12685539 in CEP110 (P_(Other)=0.038 compared toP_(Unstrat)=0.115), a Breslow-Day test of effect heterogeneity comparingOR_(North) and OR_(Other) was not significant. Furthermore, a positionalplot of Mantel-Haenszel P-values, testing for association given thegenetic background stratification, was very similar to the unadjustedplot (not shown) suggesting that stratification of the case and controlsamples by SNPs informative for European substructure did not change theassociation patterns in Sample Set 2.

Rheumatoid Factor (RF)

Rheumatoid factor, a circulating antibody to immunoglobulin G, is a keyserum analyte used in diagnosis of RA as well as an aid for theprognosis of RA-severity [2]. As the R620W missense polymorphism inPTPN22 appears to have stronger susceptibility effects for RF-positivedisease [9] and since RF is clinically important, the role of RF statuson the chr 9q33.2 association patterns was investigated for the three LDBlock 1 SNPs, rs2239657, rs7021880 and rs7021049, testing for bothstrata-specific effects as well as effect size differences betweenRF-positive and RF-negative disease.

To explore the effect isolated to RF-positive patients compared tocontrols, a strata-specific analysis was performed for all sample setsusing a genotypic test. The resulting combined P-values for theRF-positive stratum were highly significant (P_(rs2239657)=4.02E-05,P_(rs7021880)=7.10E-06, P_(rs7021049)=5.68E-06; Table 12), which wereslightly less significant when compared to the overall genotypiccombined P-values (Table 9). A similar analysis of RF-negative diseasein Sample Sets 2 and 3 yielded genotypic combined P-values ofP_(rs7021880)=0.013 and P_(rs2239657)=0.038, P_(rs7021049)=0.082.Allelic odds ratios and 95% confidence intervals were also calculatedfor each individual sample set and the results did not demonstrate aclear pattern of strata-specific effects within a stratum ordifferential effects between the two strata (Table 12). A Breslow-Daytest was performed on Sample Set 2 (individually matched cases andcontrols) to formalize the test of homogeneity of odds ratios, showingthat none of the three SNPs exhibited significant differential effects(Table 12). Similarly, results for the analogous Monte Carlo-based testperformed in Sample Set 3 (where cases and controls were notindividually matched) also did not reveal significant heterogeneitybetween RF-positive and RF-negative effects.

Logistic Regression

Logistic regression was used to further dissect association signals fromLD patterns, build predictive models, and explore the relative effectsof each SNP within the models constructed. To accomplish this, thenumber of SNPs for these analyses was first minimized by calculatingpairwise r² values for the 43 SNPs genotyped in all three sample sets,and the SNPs were divided into distinct groups based on their LDstructure. SNPs with pairwise r² values >0.90 were grouped together,resulting in 27 distinct groups (Table 13) and then the single mostsignificant SNP from each group (P_(comb) from Table 9) was chosen forthe logistic regression analyses.

In the univariate analysis, the TRAF1 intronic SNP rs7021049, whichmarks the Group 2 SNPs in LD Block 1, was the most significantSNP(P=1.24E-06), followed by rs7021880 (1.39E-06), and then the Group 1SNP, rs2239657 (P=2.52E-06) (Table 13). In addition, 11 other SNPs weresignificant (P<0.01). To assess whether other observed associations inthe region were primarily a result of LD with the most significant SNP,pairwise logistic regression was performed on all 27 SNPs, adjusting forrs7021049. One SNP retained statistical significance (P<0.01):rs10985196 (Group 21), a GSN intronic SNP(P=0.001). To test whether thecombination of Group 2 and Group 21 variants fully accounted for theassociation with RA, the logistic regression was repeated, adjusting forboth rs7021049 and rs10985196; none of the remaining groups of SNPs weresignificantly associated with RA.

To explore more complex models, both forwards and backwards stepwiselogistic regression procedures were used separately on the same 27 SNPsin each individual sample set as well as in a combined analysis of allthree sample sets (Table 14). The forward model for the combinedsamples, which included two SNPs, rs7021049 (the Group 2 TRAF1 intronicSNP) and rs10985196 (the GSN intronic SNP), was consistent with theresults of the pairwise logistic regression analysis presented above.

Multi-Locus RA Risk Calculations

The risk of RA given genotypes at the three loci HLA-DRB1, PTPN22 andthe TRAF1 region was estimated under three different possibleunconditional RA risk assumptions (i.e., RA disease prevalence values)using Bayes' theorem. In total, there were 18 multi-locus genotypecombinations, and RA risk was calculated for each combination using datafrom Sample Set 1 as described in the “Materials and Methods” section ofExample 1 below. Assuming a 1% RA prevalence, similar to that observedin the white North American general population, the results indicatethat individuals with the protective genotype at all three loci (OSE forHLA-DRB1, CC genotype for PTPN22 and the AGT/AGT TRAF1 diplotype) have asubstantially reduced predicted risk of RA (0.29% vs. 1%), whereas thoseindividuals in the highest-risk category (HLA-25E, TT or TC genotype atPTPN22, and the GCG/GCG TRAF1 diplotype), have an estimated RA risk of13.06%, representing more than a 45-fold increase in risk. These dataare presented as a 3-D plot in FIG. 1 where the lowest risk value hasbeen reset to 1 and the other values normalized accordingly.Approximately 19% of the general population will find themselves in thelow-risk multi-locus genotype category and only 0.06% in the high riskgroup. In contrast, when the disease prevalence is increased to 30%, asmight be observed in high-risk groups such as an early arthritis clinic,the range of risk drops to 7.88-fold, with the posterior probability ofRA calculated to be 11% for the lowest-risk genotype combination andincreasing to 86.4% in the highest risk category (Table 15).

Discussion

A large-scale, multi-tiered association study of RA was carried outusing a panel of putative functional SNPs, particularly focuses onvariants in the chromosome 9q33.2 region. In particular, three groups ofSNPs, represented by rs2239657 (Group 1), rs7021049 (Group 2) andrs7021880 were highly significant and showed a localized effect to a 70kb region extending from rs10985070, in intron 3 of PHF19, across TRAF1to rs2900180 in the TRAF1-05 intergenic region, but excluding the C5coding region (LD Block 1). Examination of the CEU HapMap dataidentified 16 additional SNPs (rs1930778, rs10760121, rs1468671,rs7046108, rs10435843, rs758959, rs2109895, rs1930780, rs10739580,rs10733648, rs7039505, rs2269060, rs7037195, rs1014530, rs3761847,rs10760129) that were highly correlated (r²>0.95) with either the Group1 or Group 2 SNPs genotyped in this study, and all 16 fall within this70 kb region. Across sample sets, the evidence for association at thesesites was stronger, maintaining statistical significance aftercorrection for multiple testing, and more consistent than sites inneighboring regions. Additional analyses further buttressed thestatistical support for these conclusions: (i) a haplotype slidingwindow analysis of all SNPs genotyped in the chr 9q33.2 regiondemonstrated strong statistical evidence for the TRAF1-region harboringRA risk variants (P_(comb)=4.15E-08) and (ii) haplotype analysis of SNPswithin the 70 kb LD Block 1, identified a common protective haplotype(P_(comb)=3.08E-08) and a less frequent risk haplotype(P_(comb)=8.00E-09). The three representative SNPs (rs2239657, rs7021049and rs7021880) were strongly associated with RF-positive disease andtrended towards association in RF-negative disease.

Logistic regression was used to tease apart association signals from LDpatterns. The pairwise analyses of the combined datasets suggest theremay be two independent statistical signals of association to RA at chr9q33.2—one in the TRAF1 region represented by rs7021049 and one in theGSN region represented by rs 10985196 (Table 13). Analyses of theindividual sample sets showed rs10985196 was independently associatedwith disease risk in Sample Set 2 while rs7021049 shows consistentassociation across all three sample sets (data not presented).

The original RA-associated, 9q33.2 SNP identified in the genome-widescan, rs1953126, is located within LD Block 1, 1 kb upstream of the 5′end of PHF19, the human homologue of the Drosophila polycomblike protein(PCL) gene. In Drosophila, the protein encoded by this gene is part ofthe 1MDa extra sex combs and enhancer of zeste [ESC-E(Z)] complex whichis thought to mediate transcriptional repression by modulating thechromatin environment of many developmental regulatory genes such ashomeobox genes. In humans, this gene encodes two nuclear proteins thatappear to be upregulated in multiple cancers, and preliminary evidencesuggests that deregulation of these genes may play a role in tumorprogression [49].

TRAF1 encodes a protein that is a member of the TNF receptor (TNFR)associated factor (TRAF) protein family that associates with, andmediates, signal transduction from various receptors including a subsetof the TNFR superfamily. There are six members of this family of adaptorproteins; however, TRAF1 is unique in that while it contains thehallmark carboxyl-terminal TRAF domain, it has a single zinc finger inthe amino-terminal part, and the N-terminal RING finger domain (requiredfor NF-κB activation) is missing. TRAF1 appears to have bothanti-apoptotic and anti-proliferative effects [50,51]. In addition, thisprotein has been found to be elevated in malignancies of the B celllineage [52-57]. This observation is interesting given that the risk oflymphoma, particularly diffuse large B cell lymphomas, appears to beincreased in the subset of RA patients with very severe disease,independent of treatment [58,59]. It is clear that TRAF1 plays animportant role in immune cell homeostasis, making it an excellentcandidate gene for RA. Further, in vitro work suggests thatTNFα-mediated synovial hyperplasia, a major pathophysiologic feature ofRA, may be correlated with upregulation of TRAF molecules, particularlyTRAF1 [60]. Given that TNF blockade has proved a highly effectivetherapy for RA [61,62], and response to TNF inhibitors among RA patientsis known to vary, TRAF1 variants can be useful for assessing (e.g.,predicting) an individual's response to TNF inhibitors as well as otherdrug treatments.

SNPs in LD Block 1 could differentially regulate the expression of theC5 gene. C5 encodes a zymogen that is involved in all three pathways ofcomplement activation. Traditionally, the complement system has beenviewed as a central part of the innate immune system in host defensesagainst invading pathogens and in clearance of potentially damaging celldebris; however complement activation has also recently been implicatedin the pathogenesis of many inflammatory and immunological diseases.Proteolytic cleavage of C5 results in C5a (one the most potentinflammatory peptides) and C5b (a component of the membrane attackcomplex (MAC) that can cause lysis of cells and bacteria). Geneticstudies in various mouse models of RA, including collagen-inducedarthritis (CIA) and the K/BXN T cell receptor transgenic mouse model ofinflammatory arthritis, have provided evidence that C5 (or a variant instrong LD) plays a role in disease [63-65]. Furthermore, anti-05monoclonal antibody therapy can prevent and ameliorate disease in bothmouse models [66,67].

Thus, a region on chromosome 9q33.2, particularly variants in TRAF1, isidentified herein as being associated with risk for RA. In addition todeveloping targeted therapies with knowledge of predisposing variantsunderlying the onset of RA, the identification of RA susceptibilityalleles may encourage earlier monitoring and provide an interventionavenue in advance of significant joint erosion. The analysis disclosedherein of the three known genetic risk factors (the chr 9q33.2 variantsdisclosed herein, as well as HLA-SE and PTPN22) indicates a >45-folddifference in RA risk depending on an individual's genotype at thesethree loci. These genetic variants are useful for identifyingindividuals at increased risk for developing RA, particularly withinfamilies with a history of RA, and are also useful as drug responsemarkers, particularly for assessing differential response to TNFinhibitors and other drugs.

Materials and Methods

Subjects and Samples

All RA cases included in this study were white and met the 1987 AmericanCollege of Rheumatology diagnostic criteria for RA [68]; informedwritten consent was obtained from every subject. Sample Set 1, whichconsisted of 475 RA cases and 475 individually-matched controls, wascollected by Genomics Collaborative, Inc. All case samples were whiteNorth Americans of European descent who where rheumatoid factor (RF)positive. Control samples were healthy white individuals with no medicalhistory of RA, also of European descent. A single control was matched toeach case on the basis of sex, age (±5 years), and self-reported ethnicbackground. The 661 cases in Sample Set 2 were acquired from the NorthAmerican Rheumatoid Arthritis Consortium (NARAC) and consisted ofmembers from 661 white North American multiplex families [33,69,70].Both RF-positive and RF-negative patients were included in this sampleset. Controls for Sample Set 2 were selected from 20,000 healthyindividuals enrolled in the New York Cancer Project [71], apopulation-based prospective study of the genetic and environmentalfactors that cause disease. Two control individuals were matched to asingle, randomly chosen affected sibling from each NARAC family on thebasis of sex, age (decade of birth), and self-reported ethnicbackground. Sample Set 3 was composed of 596 white RA patients from theLeiden University Medical Center and 705 white controls from the samegeographic region in The Netherlands [72-74]. Both RF-positive andRF-negative patients were included in this sample set. Table 8 displaysthe clinical characteristics of all three sample sets and a detaileddescription of samples that overlap with published studies of thisregion [34,35].

Controls (which may also be referred to as “healthy” or “normal”individuals), in addition to having no medical history of RA, also werefree of psoriasis, systemic lupus erythematosus, ankylosing spondylitis,and Reiter syndrome, had rheumatoid factor levels below 20 IU, and hadno history of bone marrow transplants.

Functional Genome-Wide Scan

The functional genome-wide scan included 25,966 gene-centric SNPscurated from dbSNP, the Applera Genome Initiative [44,75], and theliterature. SNPs were included if they appeared in more than onedatabase and had a minor-allele frequency >1%. Approximately 70% of theSNPs were annotated as missense polymorphisms. The majority of theremaining SNPs were either located within putative transcription-factorsite motifs or within acceptor/donor splice site regions or werenonsense polymorphisms.

Genotyping

Allele-specific, real-time quantitative PCR [76] was used to amplify 3ng of pooled DNAs and infer SNP allele frequencies as previouslydetailed [44]. Individual genotyping on SNPs was performed on 0.3 ng ofDNA using a similar protocol. Blinded to case-control status,custom-made in-house software was used to call genotypes, followed byhand-curation. Individual genotyping accuracy has been estimated tobe >99.8% by comparison with an independent method. HLA-DRB1 genotypingwas performed using sequence-specific oligonucleotide probes aspreviously described [9]. Shared epitope (SE) status [77] was determinedfrom the probe hybridization patterns. For this study, DRB1 allelespositive for the SE include: 0101, 0102, 0401, 0404, 0405, 0408 and1001.

Fine-Scale Mapping SNP Selection

To identify SNPs for inclusion in fine-scale mapping of the 9q33.2region, two different disease models were postulated: 1) a model wherethe originally identified SNP is in linkage disequilibrium with one ormore causative SNPs and 2) a model of allelic heterogeneity whereseveral alleles at the locus independently predispose individuals to RA.To address both of these models, the region to be interrogated was firstdefined by calculating pairwise linkage disequilibrium (r²) valuesbetween the originally identified SNP 5′ of PHF19, rs1953126, and allHapMap-genotyped SNPs within 500 kb flanking either side for the CEPHsamples (Utah residents with ancestry from northern and western Europe,or CEU individuals) [36]. With this information, a broad region wasdefined spanning 668 kb, from MEGF9 (177 kb upstream of rs1953126) toSTOM (491 kb downstream of rs1953126), for follow-up genotyping. SNPswithin this region were partitioned into those in moderate to high LD(r²>0.20) with rs1953126 to address the first model, and those in low LD(r²<0.20) with rs1953126 to address the second model. The power-basedSNP selection program Redigo [78] was then used on the low LD set ofSNPs to identify a reduced number of SNPs (tagging SNP set) thatretained high power to detect association. Those SNPs in moderate tohigh LD with the original SNP were reduced by selecting a subset ofrepresentative SNPs of any groups exhibiting extremely high inter-groupLD (r²>0.98). Further, any putative functional SNPs were automaticallyincluded in the fine-scale mapping effort if high-quality genotypingassays could be constructed for them. The resulting set of 137 SNPs wasgenotyped in Sample Set 1 and the data analyzed. Additional removal offine-scale mapping SNPs was performed for evaluation in subsequentsample sets on the basis of association results and refined LD patterns:a subset of 72 SNPs were selected for genotyping in Sample Set 2 and 42SNPs were genotyped in Sample Set 3.

Statistical Analyses

The Cochran-Armitage trend test [79] was used to calculate P-values forindividual SNPs. A William's-corrected G-test [37] was used to calculateP-values for genotypic association. P-values were corrected for multipletesting using the method of Dunn-Sidak [37]. Odds ratios and confidenceintervals were calculated according to standard procedures.Hardy-Weinberg equilibrium testing was accomplished through the exacttest of Weir [80]. P-values were combined across sample sets using theFisher's combined P-value, or omnibus procedure [81] Likewise,Mantel-Haenszel common odds ratios [82] were calculated to combine dataacross sample sets. To avoid the small-count limitations ofasymptotic-derived confidence intervals, a Monte Carlo simulation waswritten in XLISP-STAT to calculate 95% confidence intervals on theMantel-Haenszel common odds ratios. 20,000 iterations of the Monte Carlowere typically performed for these confidence intervals. The standardmeasure of pairwise linkage disequilibrium (the r² statistic fromestimated 2-site haplotypes) was used to characterize the geneticarchitecture of the region. The program LDMAX with an EM algorithm wasused to perform the r² calculation [83].

Genetic Analyses

Haplotype Analysis

Haplotypes were estimated from unphased genotype data and evaluated forassociation with RA through the Haplo.Stats software package [39]. Asliding window of haplotype association was calculated using a windowsize of 5 SNPs. Global P-values (calculated across all haplotypes withina window) and haplotype-specific ORs and P-values were calculated.Additional haplotype analyses were performed using a combination of thePseudo-Gibbs sampling algorithm in the program SNPAnalyzer [40] and theHaplo.Stats package.

Genetic Background-Conditioned Analysis

A panel of 749 SNPs previously selected to be informative forclassifying individuals of European descent into Northern and Southerngeographical groups was applied to case and control samples from thesecond sample set as described previously [41]. Applying this method,367 cases and 525 controls from Sample Set 2 were placed into a northernEuropean ancestry cluster. Each case or control individual had a greaterthan 0.95 probability of belonging to the northern European cluster. Theremaining cases and controls from this study were binned into an “Other”category. A Breslow-Day analysis [84] was applied to the stratified datato test for heterogeneity in ORs between the two groups for the9q33.2-linked SNPs studied here. To test for association conditioned onthese stratified data, a Mantel-Haenszel P-value was also calculated.

Subphenotype Analysis: Rheumatoid Factor

Rheumatoid Factor (RF) levels were measured in cases as previouslydescribed [85,86]. To test for heterogeneity of effect betweenRF-positive and RF-negative patients, two different methods were used.In sample set 2, where case-control matching was part of the studydesign, the Breslow-Day [84] test was used. Since individual matchingwas not incorporated into Sample Set 3, a Monte Carlo simulation wasused to compare the effect size for RF-positive patients versus allcontrols to the effect size for RF-negative patients versus allcontrols. Similar to other tests of homogeneity of odds ratios, a teststatistic was constructed measuring the departure between normalizedodds ratios comparing two groups (see equation 51 in the “SupportingInformation” section of Example 1 below) and a Monte Carlo simulationwas run to account for correlated odds ratios in the null distribution.Monte Carlo P-values were calculated in the traditional manner.

Logistic Regression

Logistic regression models were performed to assess the relativeimportance of 27 SNPs chosen as distinct representatives of groups ofSNPs with pairwise r² values >0.90. First, a logistic regression modelfor each unique pair of SNPs was performed. These pairwise modelsassumed a multiplicative effect on the risk of RA for each additionalcopy of an allele. The p-values and odds ratios for the effect of eachSNP when controlling for each alternative SNP were examined visually todetermine if any SNP showed obvious patterns (attenuating the risk ofeach alternate SNP and retaining risk when adjusted for each alternateSNP). These types of patterns might be expected under a disease model ofa single functional SNP. For models in which both SNPs remained stronglyassociated (p<0.01), additional models were performed to determine ifadding a third SNP significantly improved the model. To examinemulti-SNP relationships in a more automated fashion, both a forward aswell as a backward stepwise logistic regression procedure was performedon each sample set individually as well as on the combined sample sets.The stepwise models were performed coding the genotypes with indicatorvariables and with a significance level of 0.05 for the 2 degree offreedom score test (for entry) or Wald test (for exit) on the effect ofthe SNP used as a threshold for entry or exit from the model. Modelsapplied to the combined sample sets also forced sample set as acovariate in the model. The final model from each procedure was alsoapplied to the other sample sets to assess consistency of the modelsacross sample sets. The p-value from the likelihood ratio test of theglobal null hypothesis for each model is reported. All logisticregression models were performed using SAS version 9.

Multi-locus RA Risk Calculations

Risk for RA given every possible 3-locus genotype combination at theHLA-DRB1 shared epitope, the R620W SNP in PTPN22, and 3-SNP TRAF1diplotypes was calculated for sample set 1 using Bayes' theorem (seeequations S2 and S3 in the “Supporting Information” section of Example 1below) assuming conditional independence between loci (the commonly-usedNaive Bayes model for predictive modeling) and a range of RA prevalencevalues (1%, 10% and 30%). Theoretical calculations (not shown)demonstrate that unless both sample sizes and epistatic effects are verylarge, probability estimates of the jointly-occurring genotypes havelower error rates assuming conditional independence between loci.Therefore, fully-factorizing the probability of multi-locus genotypes(using the conditional independence assumption) is warranted under abroad range of the parameter space. By estimating the posteriorprobability of RA for every possible multi-locus genotype combination,accurate individual-based prognosis is possible. Confidence intervals onthe relative risk estimates were obtained through simulation. Due to theselection of loci for inclusion in the model, some overfitting may bepresent.

Supporting Information

Rheumatoid Factor Analysis

Investigating the effect heterogeneity between two case groups,RF-positive and RF-negative disease, with the same group of controls, aMonte Carlo procedure was devised using a simple test statistic tomeasure the normalized departure between two odds ratios. As thecorrelated nature of the two odds ratios were automatically incorporatedinto the Monte Carlo simulation, the appropriate null distribution ofthis test statistic was obtained without complicated analytictechniques. The test statistic constructed was

$\begin{matrix}{{T = \left( {\frac{\ln \; {OR}_{1}}{\sqrt{\frac{1}{x_{1}} + \frac{1}{x_{2}} + \frac{1}{z_{1}} + \frac{1}{z_{2}}}} - \frac{\ln \; {OR}_{2}}{\sqrt{\frac{1}{y_{1}} + \frac{1}{y_{2}} + \frac{1}{z_{1}} + \frac{1}{z_{2}}}}} \right)^{2}};} & \left( {{eqn}\mspace{14mu} {S1}} \right)\end{matrix}$

where OR₁ is the allelic odds ratio comparing RF-positive cases to thecontrol group; OR₂ is the allelic odds ratio comparing RF-negative casesto the control group; and x₁ and x₂ are the allelic counts for the A₁allele and A₂ allele in the RF-positive case group, respectively. Usingsimilar notation, y₁ and y₂ are the allelic counts in RF-negative cases,and Z₁ and Z₂ are the allelic counts in the control group.

Multilocus RA Risk Calculations

The probability of RA given the genotypes at the three predisposing lociis

$\begin{matrix}{{P\left( {\left. {RA} \middle| G_{HLA} \right.,G_{{PTPN}\; 22},G_{{TRAF}\; 1}} \right)} = \frac{{P\left( {G_{HLA},G_{{PTPN}\; 22},\left. G_{{TRAF}\; 1} \middle| {RA} \right.} \right)}{P({RA})}}{P\left( {G_{HLA},G_{{PTPN}\; 22},G_{{TRAF}\; 1}} \right)}} & \left( {{eqn}\mspace{14mu} {S2}} \right)\end{matrix}$

Assuming conditional independence, one can fully factorize

$\begin{matrix}{\approx \frac{{P({RA})}{\prod\limits^{\;}\; {P\left( G \middle| {RA} \right)}}}{{{P({RA})}{\prod\limits^{\;}\; {P\left( G \middle| {RA} \right)}}} + {\left\lbrack {1 - {P({RA})}} \right\rbrack {\prod\limits^{\;}\; {P\left( G \middle| {CT} \right)}}}}} & \left( {{eqn}\mspace{14mu} {S3}} \right)\end{matrix}$

where P(RA) is the probability of RA, and where P(G|RA) and P(G|CT) arethe probabilities of a genotype in RA patients and controls,respectively.

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Example 2 Linkage Disequilibrium (LD) SNPs Associated with AutoimmuneDisease, Particularly Rheumatoid Arthritis

Another investigation was conducted to identify additional SNPs that arecalculated to be in linkage disequilibrium (LD) with certain“interrogated SNPs” that have been found to be associated withautoimmune disease, particularly RA, as described herein and shown inthe tables. The interrogated SNPs are shown in column 1 (which indicatesthe hCV identification numbers of each interrogated SNP) and column 2(which indicates the public rs identification numbers of eachinterrogated SNP) of Table 4. The methodology is described earlier inthe instant application. To summarize briefly, the power threshold (7)was set at an appropriate level, such as 51%, for detecting diseaseassociation using LD markers. This power threshold is based on equation(31) above, which incorporates allele frequency data from previousdisease association studies, the predicted error rate for not detectingtruly disease-associated markers, and a significance level of 0.05.Using this power calculation and the sample size, a threshold level ofLD, or r² value, was derived for each interrogated SNP (r_(T) ²,equations (32) and (33) above). The threshold r_(T) ² value is theminimum value of linkage disequilibrium between the interrogated SNP andits LD SNPs possible such that the non-interrogated SNP still retains apower greater or equal to T for detecting disease association.

Based on the above methodology, LD SNPs were found for the interrogatedSNPs. Several exemplary LD SNPs for the interrogated SNPs are listed inTable 4; each LD SNP is associated with its respective interrogated SNP.Also shown are the public SNP IDs (rs numbers) for the interrogated andLD SNPs, when available, and the threshold r² value and the power usedto determine this, and the r² value of linkage disequilibrium betweenthe interrogated SNP and its corresponding LD SNP. As an example inTable 4, the interrogated SNP rs10435844 (hCV11266229) was calculated tobe in LD with rs10760121 (hCV11266268) at an r² value of 0.9666, basedon a 51% power calculation, thus establishing the latter SNP as a markerassociated with autoimmune disease as well.

In general, the threshold r_(T) ² value can be set such that one withordinary skill in the art would consider that any two SNPs having an r²value greater than or equal to the threshold r_(T) ² value would be insufficient LD with each other such that either SNP is useful for thesame utilities, such as determining an individual's risk for autoimmunedisease such as RA, for example. For example, in various embodiments,the threshold r_(T) ² value used to classify SNPs as being in sufficientLD with an interrogated SNP (such that these LD SNPs can be used for thesame utilities as the interrogated SNP, for example) can be set at, forexample, 0.7, 0.75, 0.8, 0.85, 0.9, 0.95, 0.96, 0.97, 0.98, 0.99, 1,etc. (or any other r² value in-between these values). Threshold r_(T) ²values may be utilized with or without considering power or othercalculations.

All publications and patents cited in this specification are hereinincorporated by reference in their entirety. Modifications andvariations of the described compositions, methods and systems of theinvention will be apparent to those skilled in the art without departingfrom the scope and spirit of the invention. Although the invention hasbeen described in connection with specific preferred embodiments andcertain working examples, it should be understood that the invention asclaimed should not be unduly limited to such specific embodiments.Indeed, various modifications of the above-described modes for carryingout the invention that are obvious to those skilled in the field ofmolecular biology, genetics and related fields are intended to be withinthe scope of the following claims.

TABLE 3 Primer 1 Primer 2 (Allele-specific (Allele-specific MarkerAlleles Primer) Primer) Common Primer hCV11266229 G/TGCGGAGACTTCATCCTGATG GCGGAGACTTCATCCTGATT CCGCTTTGGTCTGGATGTGA(SEQ ID NO: 585) (SEQ ID NO: 586) (SEQ ID NO: 587) hCV11720383 A/GTTCCTGACATGCCCCA TCCTGACATGCCCCG TGTCCCCCTGCCTTGACTTAT (SEQ ID NO: 588)(SEQ ID NO: 589) (SEQ ID NO: 590) hCV11720386 A/G GCTTCCCAAAAGACTAATGCTAGCTTCCCAAAAGACTAATGCTG GGATAATTTTGCCAGATCGCCTTCTA (SEQ ID NO: 591)(SEQ ID NO: 592) (SEQ ID NO: 593) hCV11720394 A/T CCTCGGTCATCAATGCTTATAACCTCGGTCATCAATGCTTATAA CAGCACGAATTATTCCAGCTTTCTT TTA TTT TG(SEQ ID NO: 594) (SEQ ID NO: 595) (SEQ ID NO: 596) hCV11720402 C/TTGGGAAATTCAAGGCG CTGGGAAATTCAAGGCA TTTAAGTCCTGGGTAAACTAAATAGA(SEQ ID NO: 597) (SEQ ID NO: 598) (SEQ ID NO: 599) hCV11720413 C/TGAAAACAGCTTTACAGACAAGC AGAAAACAGCTTTACAGACAAGT GGAAGCCACAGAAAGGCATCAG(SEQ ID NO: 600) (SEQ ID NO: 601) (SEQ ID NO: 602) hCV11720414 A/GGCCCAATGAATAATAATCACAA GCCCAATGAATAATAATCACAA AGCAATGCTGTGGAAGGAGAGATATAAGTT AAGTC (SEQ ID NO: 605) (SEQ ID NO: 603) (SEQ ID NO: 604)hCV11720421 A/G AGAGAAGGTGTGTCCAACA GAGAAGGTGTGTCCAACGAGAGGTGAGCACTTCGCTCTATC (SEQ ID NO: 606) (SEQ ID NO: 607)(SEQ ID NO: 608) hCV11840638 A/G ACTCCGCAGGCATCAT ACTCCGCAGGCATCACGGAAGCAAAGTGGAGTGTGAACAATA (SEQ ID NO: 609) (SEQ ID NO: 610)(SEQ ID NO: 611) hCV1219005 A/G CAAACCTGATCACTTTAGGGAACAAACCTGATCACTTTAGGGAG GGAGAATGCGGCTCACACTC (SEQ ID NO: 612)(SEQ ID NO: 613) (SEQ ID NO: 614) hCV1219006 C/G GGGAAGTCTTTCTGGATTGTTGGGGAAGTCTTTCTGGATTGTTC CCATAGCTGCTCTGAAGGGACTG (SEQ ID NO: 615)(SEQ ID NO: 616) (SEQ ID NO: 617) hCV1434291 A/G CTTTCTGTCTTGCCCCATCTTTCTGTCTTGCCCCAC AGGATGGGCTAAGGAATTACTGAAAT (SEQ ID NO: 618)(SEQ ID NO: 619) ACC (SEQ ID NO: 620) hCV1434292 A/CGCAGAGGAAATCCAGTTATCTT GCAGAGGAAATCCAGTTATCTG CCGTTCCCCATCAGCTGATTTAC(SEQ ID NO: 621) (SEQ ID NO: 622) (SEQ ID NO: 623) hCV1452636 A/GGCCACACAATCTAGCAATTCT GCCACACAATCTAGCAATTCC TCATGCACTGGTGGACACTTAGAT(SEQ ID NO: 624) (SEQ ID NO: 625) (SEQ ID NO: 626) hCV1452662 A/CCCAAGGAGTCTACACTCTCAA CCAAGGAGTCTACACTCTCAC GAGGTGGCATGCAAACACA(SEQ ID NO: 627) (SEQ ID NO: 628) (SEQ ID NO: 629) hCV15751719 A/GGGTTCTTTACTTGCTTCAGTTA GGTTCTTTACTTGCTTCAGTT ATGTCCAGGGGATTCAAGAATGAGTATTAT ATTAC (SEQ ID NO: 632) (SEQ ID NO: 630) (SEQ ID NO: 631)hCV15757738 A/T CCACCACTGGCCTATGAT CCACCACTGGCCTATGAAGTAATGCTGCTTTACCTCAGCTAGAAC (SEQ ID NO: 633) (SEQ ID NO: 634)(SEQ ID NO: 635) hCV15849105 A/G GCCAGTCTTGGATTCATCTTATCCAGTCTTGGATTCATCTTAT AGCGAGGCTCCGTCTCAA ATACTA ATACTG (SEQ ID NO: 638)(SEQ ID NO: 636) (SEQ ID NO: 637) hCV15849116 C/T TCAGCCTTAGAACAATGCTATGGTCAGCCTTAGAACAATGCTATA GCTCTGCTCCCAAGATTTTCTGTT (SEQ ID NO: 639)(SEQ ID NO: 640) (SEQ ID NO: 641) hCV15870898 C/T GGAGCTCCCCATTTTGGAGGAGCTCCCCATTTTGA CCACTAGCCAGGCAGGATAAGAT (SEQ ID NO: 642)(SEQ ID NO: 643) (SEQ ID NO: 644) hCV15875924 A/T ACTGCTCAGTGTCTTTCCAAACTGCTCAGTGTCTTTCCAT CCTGGGGAGCTCTGAGTGAT (SEQ ID NO: 645)(SEQ ID NO: 646) (SEQ ID NO: 647) hCV15875965 A/T CTTTTGCAAGTGAGGCATAGATTTTGCAAGTGAGGCATAGT GCTGCTCCGTGGAGTAACTC (SEQ ID NO: 648)(SEQ ID NO: 649) (SEQ ID NO: 650) hCV15974495 C/T ACAGAATGATGTAGCTGTCGTACAGAATGATGTAGCTGTCA TCCTGCAGATCTGGAGAATC (SEQ ID NO: 651)(SEQ ID NO: 652) (SEQ ID NO: 653) hCV16077967 C/T AACACATTTGAGTGGGTACACAAACACATTTGAGTGGGTACAT CTGACACACCATCCTCATTGGTTTAG (SEQ ID NO: 654)(SEQ ID NO: 655) (SEQ ID NO: 656) hCV16175379 A/G CCATACCTTGTTCCGGAAACCATACCTTGTTCCGGAAG AATGGAGATGGCACTGGAAAGAGA (SEQ ID NO: 657)(SEQ ID NO: 658) (SEQ ID NO: 659) hCV16234785 C/T TGCCTCAAGTGCTTTACGGTGCCTCAAGTGCTTTACA AACGTCAGCCTCAGTGACTACTTT (SEQ ID NO: 660)(SEQ ID NO: 661) (SEQ ID NO: 662) hCV16234795 C/G CTTGGGAAAGTCATTAGTACAACTTGGGAAAGTCATTAGTACAA TCCTTCAAGGTAAGCATCTGAGTGT AC AG (SEQ ID NO: 665)(SEQ ID NO: 663) (SEQ ID NO: 664) hCV1632189 G/T GGGAAATCTTGTTGGATAGTCTGGGGAAATCTTGTTGGATAGTCTT GCAGCTCTCCTTGACTAGGAGTAAT (SEQ ID NO: 666)(SEQ ID NO: 667) (SEQ ID NO: 668) hCV1632190 C/T TTCTGATGACTGATCAAACAGACTTCTGATGACTGATCAAACAGAT GCTGAGATTCAGTACTTCAAGTTTAA (SEQ ID NO: 669)(SEQ ID NO: 670) CACAT (SEQ ID NO: 671) hCV1761888 C/TTGCCCTTTATTTACATGACG GTGCCCTTTATTTACATGACA AAAAGGCAATTCACAAAAGAG(SEQ ID NO: 672) (SEQ ID NO: 673) (SEQ ID NO: 674) hCV1761894 A/GCCTATGGAGATATGAACTGGTA CCTATGGAGATATGAACTGGTAACGAGTGGAGTCATTGAATTGTAGCTA AAAT AAAC (SEQ ID NO: 677) (SEQ ID NO: 675)(SEQ ID NO: 676) hCV1917481 C/T TCTCAGTGCAAACTGTTCAACTCTCAGTGCAAACTGTTCAAT CCTTCAGTGCTTCCTCAAAGCTTAAT (SEQ ID NO: 678)(SEQ ID NO: 679) (SEQ ID NO: 680) hCV22272061 C/G GCTAATTGAAAGCTAATGATTCGCTAATTGAAAGCTAATGATTC ATGGTGTTTCCCTGCCTCTGTA CTTG CTTC (SEQ ID NO: 683)(SEQ ID NO: 681) (SEQ ID NO: 682) hCV22272588 G/T TTGAACCCCTGTCAAAGATGCATATTGAACCCCTGTCAAAGA CCCACTATGATTGGTGTAGCTGTAGA (SEQ ID NO: 684) TT(SEQ ID NO: 686) (SEQ ID NO: 685) hCV25473087 C/T GACCAGTTGGTAGGAGGGTGACCAGTTGGTAGGAGGA CGTCACTCCAGATGGGAGATTAAG (SEQ ID NO: 687)(SEQ ID NO: 688) (SEQ ID NO: 689) hCV25612709 A/GCAGGTAAGAGATGTTGAAACTGT AGGTAAGAGATGTTGAAACTGC GGGGAACCACTCAGGATTAGAGA(SEQ ID NO: 690) (SEQ ID NO: 691) (SEQ ID NO: 692) hCV25751916 A/CACAACCAGATTTGATCATCATC CAACCAGATTTGATCATCATCAC TCTCCTCTGCTGCCTTCATTTCTAA (SEQ ID NO: 694) (SEQ ID NO: 695) (SEQ ID NO: 693) hCV25763321 A/GCTCCTCCTGGCTCTCA TCCTCCTGGCTCTCG CTGGAGCAGAACCTGTCAGAC (SEQ ID NO: 696)(SEQ ID NO: 697) (SEQ ID NO: 698) hCV25766419 G/T GGTTCTAACCCCATCTTTCCGGTTCTAACCCCATCTTTCA CTTGGCAGTGTAGAAGGCTGAAAC (SEQ ID NO: 699)(SEQ ID NO: 700) (SEQ ID NO: 701) hCV26144018 A/G TCCTCCACTACCCTCAGACCTCCACTACCCTCAGG GTCTCCACCTTCACGATGTTTACAT (SEQ ID NO: 702)(SEQ ID NO: 703) (SEQ ID NO: 704) hCV26144282 A/T TCAGGACAAGAATCTCATTTCATTCAGGACAAGAATCTCATTTC TATGAGCCTTTCACATACGTGTATTA TT ATA CAGA(SEQ ID NO: 705) (SEQ ID NO: 706) (SEQ ID NO: 707) hCV26144366 G/TGCAAAGAGCTGAGAGAATCC GCAAAGAGCTGAGAGAATCA GACAGACACAAGGACCATCCTGATA(SEQ ID NO: 708) (SEQ ID NO: 709) (SEQ ID NO: 710) hCV2644 A/CCTGCAGGTATTTGGGGAA CTGCAGGTATTTGGGGAC GTATGGGAAGAGCTTCACCTACTGT(SEQ ID NO: 711) (SEQ ID NO: 712) (SEQ ID NO: 713) hCV27476319 A/GCCAAACTTACCTGGCTGTTTATA CAAACTTACCTGGCTGTTTATG GTGTTTTGCCTGGGTTTTGAAGAAC(SEQ ID NO: 714) (SEQ ID NO: 715) (SEQ ID NO: 716) hCV2783582 A/GCTCATAAGAAGGTCACATGTCAT CTCATAAGAAGGTCACATGTCAC ATGTATGCCATGCCACTTTTGTCA(SEQ ID NO: 717) (SEQ ID NO: 718) (SEQ ID NO: 719) hCV2783586 C/GTGTTCATTCTGTGTACCTTCAG TGTTCATTCTGTGTACCTTCAC GGCTATTTCCTGCCATCTCTGTAAAC(SEQ ID NO: 720) (SEQ ID NO: 721) (SEQ ID NO: 722) hCV2783589 C/TGCTTTCAGATAACAGACAAACAC AGCTTTCAGATAACAGACAAAC CTGATGAGCGGCTTCGGTTAAA(SEQ ID NO: 723) AT (SEQ ID NO: 725) (SEQ ID NO: 724) hCV2783590 C/TCAATGGGGACAATCTCAGC ACAATGGGGACAATCTCAGT ATTCATAGATGAGGGTATTTCTGGTG(SEQ ID NO: 726) (SEQ ID NO: 727) TTGA (SEQ ID NO: 728) hCV2783591 C/GCCCTGCTGACACCTTAATC CCCTGCTGACACCTTAATG CGGGATTAAGGGGACAGTTCTATC(SEQ ID NO: 729) (SEQ ID NO: 730) (SEQ ID NO: 731) hCV2783597 G/TCCACCTCCTAGCTTGTAGAG CCACCTCCTAGCTTGTAGAT GGGTCTCAGGAGAACTCGATTGT(SEQ ID NO: 732) (SEQ ID NO: 733) (SEQ ID NO: 734) hCV2783604 C/TACTTAACATCCTGTTATCACAT CACTTAACATCCTGTTATCACA GCACCCGGCCTTGACTT TCTGTTCTA (SEQ ID NO: 737) (SEQ ID NO: 735) (SEQ ID NO: 736) hCV2783608 A/TGTAGTAGGGTCCTGACTTGA GTAGTAGGGTCCTGACTTGT GAGAGAAGCCTGGGCAATACTG(SEQ ID NO: 738) (SEQ ID NO: 739) (SEQ ID NO: 740) hCV2783611 A/GGGGGAACCTCCGTCTGT GGGAACCTCCGTCTGC AAAGTTTTGCTTCATCAACTACA(SEQ ID NO: 741) (SEQ ID NO: 742) (SEQ ID NO: 743) hCV2783618 C/TGCCAGCTGACAAACACTG GGCCAGCTGACAAACACTA CCAAGGTCAGCGGCTCAAA(SEQ ID NO: 744) (SEQ ID NO: 745) (SEQ ID NO: 746) hCV2783620 C/GTGCCCCAGATGTGTTTTC TGCCCCAGATGTGTTTTG TGAGCTGGATTCCTGGTGGATAAG(SEQ ID NO: 747) (SEQ ID NO: 748) (SEQ ID NO: 749) hCV2783621 C/TTGAGTGTGAGAAAGGAGATCTG CTGAGTGTGAGAAAGGAGATCTA GCTCTGATGCTTGGGAAAGTCAT(SEQ ID NO: 750) (SEQ ID NO: 751) (SEQ ID NO: 752) hCV2783625 A/GGGAGGTGACCTTGGATTATCT GGAGGTGACCTTGGATTATCC TTGTGGTCCCTTCCTCCATCTTC(SEQ ID NO: 753) (SEQ ID NO: 754) (SEQ ID NO: 755) hCV2783633 G/TGTTCCAAGAACATGCATTTGG AGTTCCAAGAACATGCATTTGT CTCTGAGCTGGTCCCTCTCAT(SEQ ID NO: 756) (SEQ ID NO: 757) (SEQ ID NO: 758) hCV2783634 C/GGAGACCATTATCAGCTCACG GAGACCATTATCAGCTCACC GAGGGCCAGGGTTCTAAATTGTA(SEQ ID NO: 759) (SEQ ID NO: 760) (SEQ ID NO: 761) hCV2783638 C/TACTTTCACAGTGGTTTCAGATC ACTTTCACAGTGGTTTCAGATT CCCAGGGCCCACAGTTAGTAA(SEQ ID NO: 762) (SEQ ID NO: 763) (SEQ ID NO: 764) hCV2783641 C/GCTTTTCTTATTAGAGCAGGTT CTTTTCTTATTAGAGCAGGTT TCCTTCCCCTGGTTTGGGATAAA GGGC (SEQ ID NO: 767) (SEQ ID NO: 765) (SEQ ID NO: 766) hCV2783653 A/GCAACCTGTGAACATGAGAATACT AACCTGTGAACATGAGAATACC GGTGTTGTTTGCCTCTATCACATCT(SEQ ID NO: 768) (SEQ ID NO: 769) (SEQ ID NO: 770) hCV2783655 A/GTCCAAGCCTCACTTTGTGT CCAAGCCTCACTTTGTGC CTGCTGTATGAACTTGGGTCTGG(SEQ ID NO: 771) (SEQ ID NO: 772) (SEQ ID NO: 773) hCV2783663 G/TCTTCATCTTGGAATGCTCAAAAG CTTCATCTTGGAATGCTCAAAATACCATTAGACTAGTTAAGATCACTAA (SEQ ID NO: 774) (SEQ ID NO: 775) GGATGTGA(SEQ ID NO: 776) hCV2783668 C/T GGCTACTTGTGAGTTCTTTGGGGCTACTTGTGAGTTCTTTGA GGTATTTGGCAACTGTTAACTTTGTGGA (SEQ ID NO: 777)(SEQ ID NO: 778) (SEQ ID NO: 779) hCV2783677 C/T GGAACAGATGATTTCAATGGTCGGAACAGATGATTTCAATGGTC GTTTCTTACAAGCATAAAGGTGCCTTA TC TT CA(SEQ ID NO: 780) (SEQ ID NO: 781) (SEQ ID NO: 782) hCV2783678 C/GCCAGTAGAGGTAAATGAAGAAC CCAGTAGAGGTAAATGAAGAAC CTGTTTAGGACATAGCTGACACTCAATTTG TTTC (SEQ ID NO: 785) (SEQ ID NO: 783) (SEQ ID NO: 784) hCV2783699C/T CATGTGCAGGTCTGTTGTAC CATGTGCAGGTCTGTTGTAT GTGGAGGGTGAGAGAAGGGTAAAG(SEQ ID NO: 786) (SEQ ID NO: 787) (SEQ ID NO: 788) hCV27912350 A/GGCAAATGTAGGACTCTTGATGT CAAATGTAGGACTCTTGATGTTGCGAACAGAGCCTAGCAAATGGTAAAT TA (SEQ ID NO: 790) (SEQ ID NO: 791)(SEQ ID NO: 789) hCV27912351 G/T GCCTGGGGCTTATAAAAGG GCCTGGGGCTTATAAAAGTGGCAAACAACAGGCAAATGTGA (SEQ ID NO: 792) (SEQ ID NO: 793)(SEQ ID NO: 794) hCV28010798 C/G TGAGGAGACAAAGTGGCTC TGAGGAGACAAAGTGGCTGAGTGATAGGGAATTTGTAGCCGTCTTT (SEQ ID NO: 795) (SEQ ID NO: 796)(SEQ ID NO: 797) hCV29005933 C/T TTGCTTTAACTCCCTTGTAGCCTTGCTTTAACTCCCTTGTAGT CAGGCTCGGATGAACCTCAAAG (SEQ ID NO: 798)(SEQ ID NO: 799) (SEQ ID NO: 800) hCV29005936 A/G TGGGTTGAAGCCTCAATTCTAGGGTTGAAGCCTCAATTCTG CGCAATTATTTGGACAAATGAGGAAA (SEQ ID NO: 801)(SEQ ID NO: 802) CATG (SEQ ID NO: 803) hCV29005938 C/GTCCTTAGCCCTTTAATTGGATT TCCTTAGCCCTTTAATTGGATTTTGCAGAGGAATCGGAATCAGGATATT TG TC (SEQ ID NO: 806) (SEQ ID NO: 804)(SEQ ID NO: 805) hCV29005968 C/T TCCATACCTCTGTTCGGC TTCCATACCTCTGTTCGGTTCAGGGCTACGGTGATGTTTCA (SEQ ID NO: 807) (SEQ ID NO: 808)(SEQ ID NO: 809) hCV29005978 A/G AGCTATCCCCCTACCGT GCTATCCCCCTACCGCGACAGGAAATTCCCCTGAACTCT (SEQ ID NO: 810) (SEQ ID NO: 811)(SEQ ID NO: 812) hCV29005979 A/T TGGTCCTACTGTCCCTACT TGGTCCTACTGTCCCTACAGCCCTGTTCCTTCCTGTGTT (SEQ ID NO: 813) (SEQ ID NO: 814) (SEQ ID NO: 815)hCV29006006 A/T GAGTCAGTCTTTTATGATCACA GAGTCAGTCTTTTATGATCACAGCTGCATTGACTATTTGCGAGATATT CT CA TTG (SEQ ID NO: 816) (SEQ ID NO: 817)(SEQ ID NO: 818) hCV29752541 A/T CTGCACAAAGGAGAACACA CTGCACAAAGGAGAACACTCGTACTCCAATCTGGGACTAGA (SEQ ID NO: 819) (SEQ ID NO: 820)(SEQ ID NO: 821) hCV29824827 C/T TTGAGCTTTGGGCAAGTC TTTGAGCTTTGGGCAAGTTTGTGACTCCTCACAACAACTTATCAT (SEQ ID NO: 822) (SEQ ID NO: 823) GT(SEQ ID NO: 824) hCV30167357 C/G CTCCTATCCAAGTGTTAACCAGTCCTATCCAAGTGTTAACCAC TTAGGAGGCTAGCGTAGCAATCTAG (SEQ ID NO: 825)(SEQ ID NO: 826) (SEQ ID NO: 827) hCV30203282 C/T AGCTTAGGAAACACCAAATTAAATAAGCTTAGGAAACACCAAAT TTGATGTGTCATAATGTGCGTTAGCAT AC TAAAT(SEQ ID NO: 830) (SEQ ID NO: 828) (SEQ ID NO: 829) hCV30293181 A/GGTGGAGCTCACAAAAGAGTTAT TGGAGCTCACAAAAGAGTTAC TCTCTGTTCTCAACGGCTCAGTT(SEQ ID NO: 831) (SEQ ID NO: 832) (SEQ ID NO: 833) hCV3045792 A/GTTGATCACTAACCTTACTCAGT TGATCACTAACCTTACTCAGT AGCCCTCAGTAAATGTTAGCCACTAGAAAT AAAC (SEQ ID NO: 834) (SEQ ID NO: 835) (SEQ ID NO: 836) hCV3045796A/T GCCTCTTCATTAAAATCATCAC GCCTCTTCATTAAAATCATCAGTGACATTGTGTTTTCCTTGATTTAG ATCAT CATCAA AAGC (SEQ ID NO: 837)(SEQ ID NO: 838) (SEQ ID NO: 839) hCV3045797 C/G ACTACTGTGGCTGTCTGATCACTACTGTGGCTGTCTGATG GCTACAGGAGGGGAGACTGATTAC (SEQ ID NO: 840)(SEQ ID NO: 841) (SEQ ID NO: 842) hCV3045798 G/T CTTTATAGGATGCAAATGCTAACTTTATAGGATGCAAATGCTA GGCATCAGAAAGAACAAAGGCTAATT TGAG ATGAT(SEQ ID NO: 845) (SEQ ID NO: 843) (SEQ ID NO: 844) hCV3045800 A/TGGGACTTCATTGATGGAAATGTA GGGACTTCATTGATGGAAATGTT TGAGCGACGTTTCAGAAGAGTCTT(SEQ ID NO: 846) (SEQ ID NO: 847) (SEQ ID NO: 848) hCV3045802 C/TGGAGCTGTGACAATCGAG GGAGCTGTGACAATCGAA ACTGTATGACTCCCTTTATGTACTAC(SEQ ID NO: 849) (SEQ ID NO: 850) AATACATG (SEQ ID NO: 851) hCV3045803A/C GCATGGACATGAGACAGATT GCATGGACATGAGACAGATG TGCTTGAATCCCCTCCTCACAT(SEQ ID NO: 852) (SEQ ID NO: 853) (SEQ ID NO: 854) hCV3045812 C/TGCAGTCAGTGCCTATGC GGCAGTCAGTGCCTATGT TCCCTCCACCAAATACAGTACTATAT(SEQ ID NO: 855) (SEQ ID NO: 856) TCTACA (SEQ ID NO: 857) hCV30527383A/G AGAGCCTGGTAAAGAAGGT GAGCCTGGTAAAGAAGGC GGCATCTGCTGGCTGAGT(SEQ ID NO: 858) (SEQ ID NO: 859) (SEQ ID NO: 860) hCV30563728 C/TTGTAATAGTGCATGAAGGACG AATGTAATAGTGCATGAAGGACA GCAAACCAACATGGCACATGTATAC(SEQ ID NO: 861) (SEQ ID NO: 862) (SEQ ID NO: 863) hCV30563729 A/TCGGTGAGAATGCCATGGA CGGTGAGAATGCCATGGT AGCCAAATTTACCAGAACAGCTAAAC(SEQ ID NO: 864) (SEQ ID NO: 865) TG (SEQ ID NO: 866) hCV30829490 C/TTGATTCTCCAATGGTTAAGAGC GTGATTCTCCAATGGTTAAGAGT TGTTGGCCAGGCTGGTTTCA(SEQ ID NO: 867) (SEQ ID NO: 868) (SEQ ID NO: 869) hCV30829528 G/TGTAAACCCTACCTAAAATGTAC GTAAACCCTACCTAAAATGTAC GAGGAGATGGAGGGGATGATGACTGG TGT (SEQ ID NO: 872) (SEQ ID NO: 870) (SEQ ID NO: 871) hCV30830255C/T TCCTCCTTGTAGTTAACAATGC GATATCCTCCTTGTAGTTAACACAGTCTTACATGCTTCCAAGAAACT (SEQ ID NO: 873) ATGT GG (SEQ ID NO: 874)(SEQ ID NO: 875) hCV30830340 C/T AGTGGATACTACTGATTTTAGAGAAGTGGATACTACTGATTTTA GGTGTTACTTTGGATCCTAGGGGTAT CAAC GACAAT TT(SEQ ID NO: 876) (SEQ ID NO: 877) (SEQ ID NO: 878) hCV30830341 A/GGAAATTCACTTCAGTAAACATG GAAATTCACTTCAGTAAACATG GGAGGTGATGGAGCCAAGATTCTACT TACC (SEQ ID NO: 881) (SEQ ID NO: 879) (SEQ ID NO: 880) hCV30830377A/G TACCCCATTTTCCATGATATGA CCCCATTTTCCATGATATGATTGTTTATGTGGGTAAATAGTATTTACGG TTA (SEQ ID NO: 883) GGTACAC (SEQ ID NO: 882)(SEQ ID NO: 884) hCV30830395 C/T TGACCCAGAGTAGAAGCTGGTTATGACCCAGAGTAGAAGCTA GCCAGCAAGCAAGTAAAGAAATGATT (SEQ ID NO: 885)(SEQ ID NO: 886) (SEQ ID NO: 887) hCV30830407 C/G TGTACACATAACAACTGAGAACTGTACACATAACAACTGAGAAC CAATAAGCCAATGATGCTGGTACTAT TG TC CA(SEQ ID NO: 888) (SEQ ID NO: 889) (SEQ ID NO: 890) hCV30830414 C/TCCTGTGTTATGTTCCACCG TCCTGTGTTATGTTCCACCA GCTGCACAGCAGGAAAGAGAAT(SEQ ID NO: 891) (SEQ ID NO: 892) (SEQ ID NO: 893) hCV30830415 C/TGGACAGAATTCTGCAGGC AGGACAGAATTCTGCAGGT CTCAGGACCTCAGACCACTTTAGTTA(SEQ ID NO: 894) (SEQ ID NO: 895) (SEQ ID NO: 896) hCV30830417 C/TGCACTAGACCTTGCCCG GCACTAGACCTTGCCCA ACTGTTCCCAAGACCATGATCACT(SEQ ID NO: 897) (SEQ ID NO: 898) (SEQ ID NO: 899) hCV30830435 A/TATCATGATCCGGTCTCTCAT TCATGATCCGGTCTCTCAA GGAATGGGGCATTTGGCTATATTGT(SEQ ID NO: 900) (SEQ ID NO: 901) (SEQ ID NO: 902) hCV30830484 A/GCATGTCTCATTTACCTCCTTTCT CATGTCTCATTTACCTCCTTTCCCCCCTTCCAGTTCTGTGATCTATGA (SEQ ID NO: 903) (SEQ ID NO: 904)(SEQ ID NO: 905) hCV30830503 G/T CAACCTCACAGATTTGGAGACCAACCTCACAGATTTGGAGAA GTTCTCACAGTAATCTGCTGAACAA (SEQ ID NO: 906)(SEQ ID NO: 907) ACT (SEQ ID NO: 908) hCV30830506 A/GAAGGGTCATATTGTCTATTTGAG AAGGGTCATATTGTCTATTTGA CCAGCACTTCCACTGGTTGTT ATGAC (SEQ ID NO: 911) (SEQ ID NO: 909) (SEQ ID NO: 910) hCV30830512 A/GAGGGGACTTATATGACTTGCAT GGGGACTTATATGACTTGCAC GCTTACTGTCCACCTGAAGGATTAGA(SEQ ID NO: 912) (SEQ ID NO: 913) (SEQ ID NO: 914) hCV30830514 A/GCATAGAGTATACCATGTTTTGAG ATAGAGTATACCATGTTTTGA GCGGCTATGTATTATAGTTGTTAAGCACT GACC ATGA (SEQ ID NO: 915) (SEQ ID NO: 916) (SEQ ID NO: 917)hCV30830536 G/T TGCATGAGGTTTACATTCAGATC TTGCATGAGGTTTACATTCAGAGAACACTTTAGGAATGGATGGTTTCA (SEQ ID NO: 918) TA ACT (SEQ ID NO: 919)(SEQ ID NO: 920) hCV30830538 A/C GGTATGATGCCCTTGAGAA GGTATGATGCCCTTGAGACTTTCCCAACCTGGCCATTGAC (SEQ ID NO: 921) (SEQ ID NO: 922) (SEQ ID NO: 923)hCV30830539 C/T GTGACTTGAGTTTCTCAGGAG GTGACTTGAGTTTCTCAGGAACTCATCTTACCACTGATAACACAGTT (SEQ ID NO: 924) (SEQ ID NO: 925) CT(SEQ ID NO: 926) hCV30830568 C/T CAGACGCATGCCACTAC ACAGACGCATGCCACTATACTTGAACCCAGGAGTTCGAGAATA (SEQ ID NO: 927) (SEQ ID NO: 928)(SEQ ID NO: 929) hCV30830600 A/T AGCAGAAGACTTGATGACCTATGCAGAAGACTTGATGACCTATTT GCCCCAACTGTATTATGCAGTTTGA TA (SEQ ID NO: 931)(SEQ ID NO: 932) (SEQ ID NO: 930) hCV30830611 A/C GACCCAAACTATTCACATGGATGACCCAAACTATTCACATGGAG CCAGAGGTCGCCACTGTTAAC (SEQ ID NO: 933)(SEQ ID NO: 934) (SEQ ID NO: 935) hCV30830638 C/TCATAGTTGTTCTCTCTGATCCTC CATAGTTGTTCTCTCTGATCCTT TCCTCTGCTGCAATCTCCTCATAG(SEQ ID NO: 936) (SEQ ID NO: 937) (SEQ ID NO: 938) hCV30830641 C/TGGCTCATAACTGTAGTCTTAGC TGGCTCATAACTGTAGTCTTAGT GCTGCAGTGCATTGGTACAA(SEQ ID NO: 939) (SEQ ID NO: 940) (SEQ ID NO: 941) hCV30830652 C/TAATCTATGGCAGTTGCCC GAATCTATGGCAGTTGCCT TCTGGGGTTGTCAAATTGAGAGACAT(SEQ ID NO: 942) (SEQ ID NO: 943) (SEQ ID NO: 944) hCV30830668 C/TGTGTACCATACTTATTCTCCCG TGTGTACCATACTTATTCTCCCA GAGATGGGTGGTATGGATGGAATGA(SEQ ID NO: 945) (SEQ ID NO: 946) (SEQ ID NO: 947) hCV30830686 C/TACTGTAGTAGCCCAGTATCAAG ACTGTAGTAGCCCAGTATCAAA CCAACATAAGGCTAAGGCAAACACT(SEQ ID NO: 948) (SEQ ID NO: 949) (SEQ ID NO: 950) hCV30830725 A/TATCCTTTTCCCGTAGAATTGAAT ATCCTTTTCCCGTAGAATTGAAA GAAGATCTCAGGGGCCTCTAAGAG(SEQ ID NO: 951) (SEQ ID NO: 952) (SEQ ID NO: 953) hCV3121923 A/GCTCCTAACTGGTCCACTCAT TCCTAACTGGTCCACTCAC GCTGGGTTTTGATGGGGAAGTAG(SEQ ID NO: 954) (SEQ ID NO: 955) (SEQ ID NO: 956) hCV578218 G/TCCCATACTCCACTAACAAGGAC CCCATACTCCACTAACAAGGAA CTTGCAGAATGTCTTAGGGGACTAGT(SEQ ID NO: 957) (SEQ ID NO: 958) (SEQ ID NO: 959) hCV578219 C/TGCCTTTGGGAAACGCC GCCTTTGGGAAACGCT CCACCCCTTTGAATCCCATACTC(SEQ ID NO: 960) (SEQ ID NO: 961) (SEQ ID NO: 962) hCV578224 C/TGGTTTTGCACAAGGCATG GGGTTTTGCACAAGGCATA GCACATGTGCAGGATGAGAAAGATAC(SEQ ID NO: 963) (SEQ ID NO: 964) (SEQ ID NO: 965) hCV7577155 C/GGACAGATGAGAAGTCACTTCAAC GACAGATGAGAAGTCACTTCAAG GCTGGGATTACATGCATGAGTCA(SEQ ID NO: 966) (SEQ ID NO: 967) (SEQ ID NO: 968) hCV7577254 C/TTCCTTATAAAATCAGACAGTTC TCCTTATAAAATCAGACAGTTC GCCTCAAAGGGAAACAAGCCTTAATTGC TGT (SEQ ID NO: 971) (SEQ ID NO: 969) (SEQ ID NO: 970) hCV7577271A/G TCTTCACAACAGCAGATACCA CTTCACAACAGCAGATACCGCACCACCCTACTTACTAGCTTTGAGTA (SEQ ID NO: 972) (SEQ ID NO: 973)(SEQ ID NO: 974) hCV7577296 C/T TATTTTGGTTTCTTGGCTCATATTATTTTGGTTTCTTGGCTCAT AGACCCAGTGATTCCAACCAATATCAT  TAAG ATAAA(SEQ ID NO: 977) (SEQ ID NO: 975) (SEQ ID NO: 976) hCV7577317 C/GGTAAAATTTAAAAGAACTGAAA GTAAAATTTAAAAGAACTGAAAGAAGAATTATATCACTGCTTCTCATGA TGGAAGAG TGGAAGAC ATCTCAC (SEQ ID NO: 978)(SEQ ID NO: 979) (SEQ ID NO 980) hCV7577337 A/G CTCCAGTGTGTCTCATTTGTTCCAGTGTGTCTCATTTGC GAGATTCAGGGACGGAAAGAAGC (SEQ ID NO: 981)(SEQ ID NO: 982) (SEQ ID NO: 983) hCV7577344 A/T TTCCCTTCCAGATAACATCCATTCCCTTCCAGATAACATCCT CTGTAAGGAGCCCTAGGAAGAATTATG (SEQ ID NO: 984)(SEQ ID NO: 985) (SEQ ID NO: 986) hCV8605400 A/C GACTCCAATGTCATGTTCTTTGACTCCAATGTCATGTTCTTTGC GTACCCACTCAGGAGCTCTTAGT (SEQ ID NO: 987)(SEQ ID NO: 988) (SEQ ID NO: 989) hCV8780517 A/G GAGACTCCCATCACAGAGTAGACTCCCATCACAGAGC ACCAAACCCATCTCCACTTTACAGT (SEQ ID NO: 990)(SEQ ID NO: 991) (SEQ ID NO: 992) hCV8780962 A/G TGGGATGAGCAATCCTGTTATGGGATGAGCAATCCTGTTAC ACCTCATTAGGCCTTGTGCTATCT (SEQ ID NO: 993)(SEQ ID NO: 994) (SEQ ID NO: 995) hCV8780967 C/T ACAGCAACCTGAAAGATTACAGACAGCAACCTGAAAGATTACAA GTTTTGTGTGTGTGTGTGTGTGAT (SEQ ID NO: 996)(SEQ ID NO: 997) (SEQ ID NO: 998) hCV8780973 A/G CAAGCATCCTGACTTCATTTAGAAAGCATCCTGACTTCATTTAGG GAGACCTTACTTTTAGGACACCGTAGTT (SEQ ID NO: 999)(SEQ ID NO: 1000) (SEQ ID NO: 1001) hDV70729405 C/T CTAACCACAACCTACCACACCTAACCACAACCTACCACAT TTGGAACCTTCGATTCTCCAGATCT (SEQ ID NO:1002)(SEQ ID NO: 1003) (SEQ ID NO: 1004)

TABLE 4 Interrogated SNP Interrogated rs LD SNP LD SNP rs PowerThreshold r² r² hCV11266229 rs10435844 hCV11266268 rs10760121 0.510.411716825 0.9666 hCV11266229 rs10435844 hCV11720350 rs2057469 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV11720413 rs1930782 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV11720414 rs1930781 0.510.411716825 1 hCV11266229 rs10435844 hCV15849105 rs2900185 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV15849116 rs2900180 0.510.411716825 1 hCV11266229 rs10435844 hCV15870898 rs2072438 0.510.411716825 0.6467 hCV11266229 rs10435844 hCV16124825 rs2109895 0.510.411716825 1 hCV11266229 rs10435844 hCV16175379 rs2239657 0.510.411716825 0.9664 hCV11266229 rs10435844 hCV16234795 rs2416804 0.510.411716825 0.6341 hCV11266229 rs10435844 hCV16234838 rs2416819 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV16234840 rs2416817 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV1632195 rs1998505 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV1761888 rs1953126 0.510.411716825 0.9666 hCV11266229 rs10435844 hCV1761891 rs1930778 0.510.411716825 0.9602 hCV11266229 rs10435844 hCV1761894 rs1609810 0.510.411716825 0.9609 hCV11266229 rs10435844 hCV2359565 rs1014530 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV25613469 rs10760157 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV25751916 rs10985070 0.510.411716825 0.6467 hCV11266229 rs10435844 hCV25771057 rs10760150 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV2783582 rs10818482 0.510.411716825 0.6467 hCV11266229 rs10435844 hCV2783586 rs2270231 0.510.411716825 0.9666 hCV11266229 rs10435844 hCV2783589 rs881375 0.510.411716825 0.9666 hCV11266229 rs10435844 hCV2783590 rs6478486 0.510.411716825 0.9666 hCV11266229 rs10435844 hCV2783591 rs1468671 0.510.411716825 1 hCV11266229 rs10435844 hCV2783593 rs1548783 0.510.411716825 1 hCV11266229 rs10435844 hCV2783597 rs1860824 0.510.411716825 1 hCV11266229 rs10435844 hCV2783599 rs7046108 0.510.411716825 1 hCV11266229 rs10435844 hCV2783604 rs10760126 0.510.411716825 0.6875 hCV11266229 rs10435844 hCV2783607 rs9886724 0.510.411716825 0.6785 hCV11266229 rs10435844 hCV2783608 rs4836834 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783609 rs2241003 0.510.411716825 0.9321 hCV11266229 rs10435844 hCV2783611 rs10435843 0.510.411716825 1 hCV11266229 rs10435844 hCV2783618 rs2239658 0.510.411716825 1 hCV11266229 rs10435844 hCV2783620 rs7021880 0.510.411716825 0.9301 hCV11266229 rs10435844 hCV2783621 rs2416805 0.510.411716825 1 hCV11266229 rs10435844 hCV2783622 rs758959 0.510.411716825 1 hCV11266229 rs10435844 hCV2783625 rs10118357 0.510.411716825 0.6645 hCV11266229 rs10435844 hCV2783630 rs2269060 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783633 rs7021049 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783634 rs1014529 0.510.411716825 1 hCV11266229 rs10435844 hCV2783635 rs1930780 0.510.411716825 1 hCV11266229 rs10435844 hCV2783638 rs3761846 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783640 rs3761847 0.510.411716825 0.6341 hCV11266229 rs10435844 hCV2783641 rs2416806 0.510.411716825 1 hCV11266229 rs10435844 hCV2783647 rs10739580 0.510.411716825 1 hCV11266229 rs10435844 hCV2783650 rs10760129 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783653 rs10760130 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783655 rs10818488 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV2783656 rs4837804 0.510.411716825 0.8956 hCV11266229 rs10435844 hCV2783659 rs7039505 0.510.411716825 1 hCV11266229 rs10435844 hCV27912350 rs4837808 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV27912351 rs4837809 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV29005923 rs6478494 0.510.411716825 0.4238 hCV11266229 rs10435844 hCV29005924 rs7031128 0.510.411716825 0.4264 hCV11266229 rs10435844 hCV29005976 rs7037195 0.510.411716825 0.6687 hCV11266229 rs10435844 hCV29005978 rs7021206 0.510.411716825 1 hCV11266229 rs10435844 hCV29006006 rs7034390 0.510.411716825 0.9666 hCV11266229 rs10435844 hCV30059070 rs10156413 0.510.411716825 0.5258 hCV11266229 rs10435844 hCV3045792 rs6478499 0.510.411716825 0.4879 hCV11266229 rs10435844 hCV3045801 rs2057465 0.510.411716825 0.4332 hCV11266229 rs10435844 hCV30563729 rs9299273 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV30830414 rs7871371 0.510.411716825 0.417 hCV11266229 rs10435844 hCV30830468 rs10818507 0.510.411716825 0.4539 hCV11266229 rs10435844 hCV30830473 rs7036649 0.510.411716825 0.4705 hCV11266229 rs10435844 hCV30830475 rs10733652 0.510.411716825 0.4269 hCV11266229 rs10435844 hCV30830484 rs10818508 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV30830486 rs10760149 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV30830503 rs4837811 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV30830512 rs10818512 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV30830521 rs10818513 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV30830536 rs7047038 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV30830638 rs10985073 0.510.411716825 0.6467 hCV11266229 rs10435844 hCV30830725 rs7864019 0.510.411716825 1 hCV11266229 rs10435844 hCV30830832 rs10733648 0.510.411716825 1 hCV11266229 rs10435844 hCV30830909 rs11794516 0.510.411716825 0.6467 hCV11266229 rs10435844 hCV7577250 rs942153 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV7577271 rs1535655 0.510.411716825 0.4465 hCV11266229 rs10435844 hCV7577287 rs1323478 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV7577296 rs1407910 0.510.411716825 0.4708 hCV11266229 rs10435844 hCV7577344 rs876445 0.510.411716825 1 hCV11720383 rs1951784 hCV11720402 rs17611 0.51 0.8498553810.9293 hCV11720383 rs1951784 hCV15751718 rs2296078 0.51 0.8498553810.9649 hCV11720383 rs1951784 hCV15755658 rs2300934 0.51 0.8498553810.8947 hCV11720383 rs1951784 hCV16234785 rs2416811 0.51 0.8498553810.9293 hCV11720383 rs1951784 hCV1632190 rs10760146 0.51 0.849855381 1hCV11720383 rs1951784 hCV2359571 rs25681 0.51 0.849855381 0.9293hCV11720383 rs1951784 hCV25968825 rs10818504 0.51 0.849855381 1hCV11720383 rs1951784 hCV26144282 rs10818499 0.51 0.849855381 0.9293hCV11720383 rs1951784 hCV26144291 rs4570235 0.51 0.849855381 0.9293hCV11720383 rs1951784 hCV26144296 rs10760143 0.51 0.849855381 1hCV11720383 rs1951784 hCV27476319 rs3747843 0.51 0.849855381 0.9649hCV11720383 rs1951784 hCV2783711 rs10733650 0.51 0.849855381 0.9293hCV11720383 rs1951784 hCV29005933 rs7042135 0.51 0.849855381 0.8947hCV11720383 rs1951784 hCV29005936 rs6478498 0.51 0.849855381 0.8947hCV11720383 rs1951784 hCV29734592 rs10435889 0.51 0.849855381 0.9272hCV11720383 rs1951784 hCV29824827 rs9657673 0.51 0.849855381 1hCV11720383 rs1951784 hCV30041036 rs10156476 0.51 0.849855381 1hCV11720383 rs1951784 hCV30167357 rs7022941 0.51 0.849855381 1hCV11720383 rs1951784 hCV3045797 rs7036541 0.51 0.849855381 1hCV11720383 rs1951784 hCV3045800 rs3736855 0.51 0.849855381 1hCV11720383 rs1951784 hCV3045804 rs2057467 0.51 0.849855381 0.9484hCV11720383 rs1951784 hCV3045808 rs10818516 0.51 0.849855381 0.9294hCV11720383 rs1951784 hCV3045810 rs2209076 0.51 0.849855381 0.9314hCV11720383 rs1951784 hCV30830415 rs7855998 0.51 0.849855381 0.8947hCV11720383 rs1951784 hCV30830427 rs10760142 0.51 0.849855381 0.8947hCV11720383 rs1951784 hCV30830440 rs10760144 0.51 0.849855381 1hCV11720383 rs1951784 hCV30830506 rs10760151 0.51 0.849855381 1hCV11720383 rs1951784 hCV30830537 rs10818515 0.51 0.849855381 0.9646hCV11720383 rs1951784 hCV30830539 rs10760153 0.51 0.849855381 0.9642hCV11720383 rs1951784 hCV30830540 rs10760154 0.51 0.849855381 0.9649hCV11720383 rs1951784 hCV30830541 rs10760155 0.51 0.849855381 0.9649hCV11720383 rs1951784 hCV30830542 rs10760156 0.51 0.849855381 0.9628hCV11720383 rs1951784 hCV7577235 rs1052508 0.51 0.849855381 0.9649hCV11720383 rs1951784 hCV7577248 rs1359086 0.51 0.849855381 0.9314hCV11720383 rs1951784 hCV7577249 rs1359085 0.51 0.849855381 0.9649hCV11720383 rs1951784 hCV7577337 rs993247 0.51 0.849855381 0.9293hCV11720402 rs17611 hCV11720383 rs1951784 0.51 0.853213654 0.9293hCV11720402 rs17611 hCV15751718 rs2296078 0.51 0.853213654 0.8957hCV11720402 rs17611 hCV15755658 rs2300934 0.51 0.853213654 0.9646hCV11720402 rs17611 hCV16234785 rs2416811 0.51 0.853213654 1 hCV11720402rs17611 hCV1632190 rs10760146 0.51 0.853213654 0.9293 hCV11720402rs17611 hCV2359571 rs25681 0.51 0.853213654 1 hCV11720402 rs17611hCV25968825 rs10818504 0.51 0.853213654 0.9293 hCV11720402 rs17611hCV26144282 rs10818499 0.51 0.853213654 1 hCV11720402 rs17611hCV26144291 rs4570235 0.51 0.853213654 1 hCV11720402 rs17611 hCV26144296rs10760143 0.51 0.853213654 0.9279 hCV11720402 rs17611 hCV27476319rs3747843 0.51 0.853213654 0.8957 hCV11720402 rs17611 hCV2783711rs10733650 0.51 0.853213654 1 hCV11720402 rs17611 hCV29005933 rs70421350.51 0.853213654 0.9646 hCV11720402 rs17611 hCV29005936 rs6478498 0.510.853213654 0.9646 hCV11720402 rs17611 hCV29734592 rs10435889 0.510.853213654 1 hCV11720402 rs17611 hCV29824827 rs9657673 0.51 0.8532136540.9251 hCV11720402 rs17611 hCV30041036 rs10156476 0.51 0.8532136540.9286 hCV11720402 rs17611 hCV30167357 rs7022941 0.51 0.853213654 0.9642hCV11720402 rs17611 hCV3045797 rs7036541 0.51 0.853213654 0.9272hCV11720402 rs17611 hCV3045800 rs3736855 0.51 0.853213654 0.9293hCV11720402 rs17611 hCV3045808 rs10818516 0.51 0.853213654 0.8595hCV11720402 rs17611 hCV3045810 rs2209076 0.51 0.853213654 0.8635hCV11720402 rs17611 hCV30830340 rs10760134 0.51 0.853213654 0.8956hCV11720402 rs17611 hCV30830341 rs7040033 0.51 0.853213654 0.8956hCV11720402 rs17611 hCV30830415 rs7855998 0.51 0.853213654 0.9646hCV11720402 rs17611 hCV30830427 rs10760142 0.51 0.853213654 0.9646hCV11720402 rs17611 hCV30830440 rs10760144 0.51 0.853213654 0.9293hCV11720402 rs17611 hCV30830506 rs10760151 0.51 0.853213654 0.9293hCV11720402 rs17611 hCV30830537 rs10818515 0.51 0.853213654 0.8946hCV11720402 rs17611 hCV30830539 rs10760153 0.51 0.853213654 0.9287hCV11720402 rs17611 hCV30830540 rs10760154 0.51 0.853213654 0.8956hCV11720402 rs17611 hCV30830541 rs10760155 0.51 0.853213654 0.8957hCV11720402 rs17611 hCV30830542 rs10760156 0.51 0.853213654 0.8894hCV11720402 rs17611 hCV7577235 rs1052508 0.51 0.853213654 0.8957hCV11720402 rs17611 hCV7577248 rs1359086 0.51 0.853213654 0.8635hCV11720402 rs17611 hCV7577249 rs1359085 0.51 0.853213654 0.8957hCV11720402 rs17611 hCV7577337 rs993247 0.51 0.853213654 1 hCV11720413rs1930782 hCV11266229 rs10435844 0.51 0.320507332 0.6687 hCV11720413rs1930782 hCV11266268 rs10760121 0.51 0.320507332 0.6344 hCV11720413rs1930782 hCV11720351 rs1885995 0.51 0.320507332 0.472 hCV11720413rs1930782 hCV11720402 rs17611 0.51 0.320507332 0.3301 hCV11720413rs1930782 hCV11720414 rs1930781 0.51 0.320507332 0.6687 hCV11720413rs1930782 hCV1452630 rs10818476 0.51 0.320507332 0.3495 hCV11720413rs1930782 hCV1452651 rs3793638 0.51 0.320507332 0.3281 hCV11720413rs1930782 hCV1452652 rs1060817 0.51 0.320507332 0.3281 hCV11720413rs1930782 hCV1452665 rs4837796 0.51 0.320507332 0.3495 hCV11720413rs1930782 hCV15751717 rs2296077 0.51 0.320507332 0.4129 hCV11720413rs1930782 hCV15751719 rs2146838 0.51 0.320507332 0.472 hCV11720413rs1930782 hCV15757738 rs2302498 0.51 0.320507332 0.4266 hCV11720413rs1930782 hCV15849116 rs2900180 0.51 0.320507332 0.6587 hCV11720413rs1930782 hCV15870898 rs2072438 0.51 0.320507332 0.9671 hCV11720413rs1930782 hCV16124825 rs2109895 0.51 0.320507332 0.6687 hCV11720413rs1930782 hCV16175379 rs2239657 0.51 0.320507332 0.6463 hCV11720413rs1930782 hCV16234785 rs2416811 0.51 0.320507332 0.3301 hCV11720413rs1930782 hCV16234795 rs2416804 0.51 0.320507332 0.9672 hCV11720413rs1930782 hCV1761881 rs3933326 0.51 0.320507332 0.3254 hCV11720413rs1930782 hCV1761888 rs1953126 0.51 0.320507332 0.6344 hCV11720413rs1930782 hCV1761891 rs1930778 0.51 0.320507332 0.5775 hCV11720413rs1930782 hCV1761894 rs1609810 0.51 0.320507332 0.6068 hCV11720413rs1930782 hCV22272588 rs10760117 0.51 0.320507332 0.3495 hCV11720413rs1930782 hCV2359565 rs1014530 0.51 0.320507332 1 hCV11720413 rs1930782hCV2359571 rs25681 0.51 0.320507332 0.3301 hCV11720413 rs1930782hCV25751916 rs10985070 0.51 0.320507332 0.9671 hCV11720413 rs1930782hCV26144282 rs10818499 0.51 0.320507332 0.3301 hCV11720413 rs1930782hCV26144291 rs4570235 0.51 0.320507332 0.3301 hCV11720413 rs1930782hCV26144307 rs1016468 0.51 0.320507332 0.472 hCV11720413 rs1930782hCV26144332 rs4837813 0.51 0.320507332 0.4513 hCV11720413 rs1930782hCV2783582 rs10818482 0.51 0.320507332 0.9671 hCV11720413 rs1930782hCV2783586 rs2270231 0.51 0.320507332 0.6344 hCV11720413 rs1930782hCV2783589 rs881375 0.51 0.320507332 0.6344 hCV11720413 rs1930782hCV2783590 rs6478486 0.51 0.320507332 0.6344 hCV11720413 rs1930782hCV2783591 rs1468671 0.51 0.320507332 0.6687 hCV11720413 rs1930782hCV2783593 rs1548783 0.51 0.320507332 0.6645 hCV11720413 rs1930782hCV2783597 rs1860824 0.51 0.320507332 0.6581 hCV11720413 rs1930782hCV2783599 rs7046108 0.51 0.320507332 0.6687 hCV11720413 rs1930782hCV2783604 rs10760126 0.51 0.320507332 1 hCV11720413 rs1930782hCV2783607 rs9886724 0.51 0.320507332 1 hCV11720413 rs1930782 hCV2783608rs4836834 0.51 0.320507332 1 hCV11720413 rs1930782 hCV2783609 rs22410030.51 0.320507332 0.7074 hCV11720413 rs1930782 hCV2783611 rs10435843 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783618 rs2239658 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783620 rs7021880 0.510.320507332 0.6088 hCV11720413 rs1930782 hCV2783621 rs2416805 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783622 rs758959 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783625 rs10118357 0.510.320507332 1 hCV11720413 rs1930782 hCV2783630 rs2269060 0.510.320507332 1 hCV11720413 rs1930782 hCV2783633 rs7021049 0.510.320507332 1 hCV11720413 rs1930782 hCV2783634 rs1014529 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783635 rs1930780 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783638 rs3761846 0.510.320507332 1 hCV11720413 rs1930782 hCV2783640 rs3761847 0.510.320507332 0.9672 hCV11720413 rs1930782 hCV2783641 rs2416806 0.510.320507332 0.6594 hCV11720413 rs1930782 hCV2783647 rs10739580 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV2783650 rs10760129 0.510.320507332 1 hCV11720413 rs1930782 hCV2783653 rs10760130 0.510.320507332 1 hCV11720413 rs1930782 hCV2783655 rs10818488 0.510.320507332 1 hCV11720413 rs1930782 hCV2783656 rs4837804 0.510.320507332 0.775 hCV11720413 rs1930782 hCV2783659 rs7039505 0.510.320507332 0.6562 hCV11720413 rs1930782 hCV2783711 rs10733650 0.510.320507332 0.3723 hCV11720413 rs1930782 hCV2783718 rs10818500 0.510.320507332 0.6661 hCV11720413 rs1930782 hCV29005955 rs7036980 0.510.320507332 0.4056 hCV11720413 rs1930782 hCV29005976 rs7037195 0.510.320507332 1 hCV11720413 rs1930782 hCV29005978 rs7021206 0.510.320507332 0.7031 hCV11720413 rs1930782 hCV29006006 rs7034390 0.510.320507332 0.6344 hCV11720413 rs1930782 hCV29879049 rs9792437 0.510.320507332 0.4468 hCV11720413 rs1930782 hCV3045812 rs7030849 0.510.320507332 0.4468 hCV11720413 rs1930782 hCV30829523 rs12343516 0.510.320507332 0.3281 hCV11720413 rs1930782 hCV30830319 rs7037673 0.510.320507332 0.517 hCV11720413 rs1930782 hCV30830325 rs10818494 0.510.320507332 0.4154 hCV11720413 rs1930782 hCV30830340 rs10760134 0.510.320507332 0.3949 hCV11720413 rs1930782 hCV30830341 rs7040033 0.510.320507332 0.3949 hCV11720413 rs1930782 hCV30830419 rs10985140 0.510.320507332 0.6317 hCV11720413 rs1930782 hCV30830474 rs10739590 0.510.320507332 0.5169 hCV11720413 rs1930782 hCV30830638 rs10985073 0.510.320507332 0.9671 hCV11720413 rs1930782 hCV30830725 rs7864019 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV30830832 rs10733648 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV30830909 rs11794516 0.510.320507332 0.9671 hCV11720413 rs1930782 hCV7577254 rs942152 0.510.320507332 0.3797 hCV11720413 rs1930782 hCV7577317 rs1323472 0.510.320507332 0.6604 hCV11720413 rs1930782 hCV7577331 rs1468673 0.510.320507332 0.6604 hCV11720413 rs1930782 hCV7577337 rs993247 0.510.320507332 0.3301 hCV11720413 rs1930782 hCV7577344 rs876445 0.510.320507332 0.6687 hCV11720413 rs1930782 hCV782875 rs746182 0.510.320507332 0.4513 hCV11720414 rs1930781 hCV11266229 rs10435844 0.510.412311868 1 hCV11720414 rs1930781 hCV11266268 rs10760121 0.510.412311868 0.9666 hCV11720414 rs1930781 hCV11720350 rs2057469 0.510.412311868 0.4465 hCV11720414 rs1930781 hCV11720413 rs1930782 0.510.412311868 0.6687 hCV11720414 rs1930781 hCV15849105 rs2900185 0.510.412311868 0.4708 hCV11720414 rs1930781 hCV15849116 rs2900180 0.510.412311868 1 hCV11720414 rs1930781 hCV15870898 rs2072438 0.510.412311868 0.6467 hCV11720414 rs1930781 hCV16124825 rs2109895 0.510.412311868 1 hCV11720414 rs1930781 hCV16175379 rs2239657 0.510.412311868 0.9664 hCV11720414 rs1930781 hCV16234795 rs2416804 0.510.412311868 0.6341 hCV11720414 rs1930781 hCV16234838 rs2416819 0.510.412311868 0.4465 hCV11720414 rs1930781 hCV16234840 rs2416817 0.510.412311868 0.4708 hCV11720414 rs1930781 hCV1632195 rs1998505 0.510.412311868 0.4708 hCV11720414 rs1930781 hCV1761888 rs1953126 0.510.412311868 0.9666 hCV11720414 rs1930781 hCV1761891 rs1930778 0.510.412311868 0.9602 hCV11720414 rs1930781 hCV1761894 rs1609810 0.510.412311868 0.9609 hCV11720414 rs1930781 hCV2359565 rs1014530 0.510.412311868 0.6687 hCV11720414 rs1930781 hCV25613469 rs10760157 0.510.412311868 0.4465 hCV11720414 rs1930781 hCV25751916 rs10985070 0.510.412311868 0.6467 hCV11720414 rs1930781 hCV25771057 rs10760150 0.510.412311868 0.4708 hCV11720414 rs1930781 hCV2783582 rs10818482 0.510.412311868 0.6467 hCV11720414 rs1930781 hCV2783586 rs2270231 0.510.412311868 0.9666 hCV11720414 rs1930781 hCV2783589 rs881375 0.510.412311868 0.9666 hCV11720414 rs1930781 hCV2783590 rs6478486 0.510.412311868 0.9666 hCV11720414 rs1930781 hCV2783591 rs1468671 0.510.412311868 1 hCV11720414 rs1930781 hCV2783593 rs1548783 0.510.412311868 1 hCV11720414 rs1930781 hCV2783597 rs1860824 0.510.412311868 1 hCV11720414 rs1930781 hCV2783599 rs7046108 0.510.412311868 1 hCV11720414 rs1930781 hCV2783604 rs10760126 0.510.412311868 0.6875 hCV11720414 rs1930781 hCV2783607 rs9886724 0.510.412311868 0.6785 hCV11720414 rs1930781 hCV2783608 rs4836834 0.510.412311868 0.6687 hCV11720414 rs1930781 hCV2783609 rs2241003 0.510.412311868 0.9321 hCV11720414 rs1930781 hCV2783611 rs10435843 0.510.412311868 1 hCV11720414 rs1930781 hCV2783618 rs2239658 0.510.412311868 1 hCV11720414 rs1930781 hCV2783620 rs7021880 0.510.412311868 0.9301 hCV11720414 rs1930781 hCV2783621 rs2416805 0.510.412311868 1 hCV11720414 rs1930781 hCV2783622 rs758959 0.51 0.4123118681 hCV11720414 rs1930781 hCV2783625 rs10118357 0.51 0.412311868 0.6645hCV11720414 rs1930781 hCV2783630 rs2269060 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV2783633 rs7021049 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV2783634 rs1014529 0.51 0.412311868 1hCV11720414 rs1930781 hCV2783635 rs1930780 0.51 0.412311868 1hCV11720414 rs1930781 hCV2783638 rs3761846 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV2783640 rs3761847 0.51 0.412311868 0.6341hCV11720414 rs1930781 hCV2783641 rs2416806 0.51 0.412311868 1hCV11720414 rs1930781 hCV2783647 rs10739580 0.51 0.412311868 1hCV11720414 rs1930781 hCV2783650 rs10760129 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV2783653 rs10760130 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV2783655 rs10818488 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV2783656 rs4837804 0.51 0.412311868 0.8956hCV11720414 rs1930781 hCV2783659 rs7039505 0.51 0.412311868 1hCV11720414 rs1930781 hCV27912350 rs4837808 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV27912351 rs4837809 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV29005923 rs6478494 0.51 0.412311868 0.4238hCV11720414 rs1930781 hCV29005924 rs7031128 0.51 0.412311868 0.4264hCV11720414 rs1930781 hCV29005976 rs7037195 0.51 0.412311868 0.6687hCV11720414 rs1930781 hCV29005978 rs7021206 0.51 0.412311868 1hCV11720414 rs1930781 hCV29006006 rs7034390 0.51 0.412311868 0.9666hCV11720414 rs1930781 hCV30059070 rs10156413 0.51 0.412311868 0.5258hCV11720414 rs1930781 hCV3045792 rs6478499 0.51 0.412311868 0.4879hCV11720414 rs1930781 hCV3045801 rs2057465 0.51 0.412311868 0.4332hCV11720414 rs1930781 hCV30563729 rs9299273 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV30830414 rs7871371 0.51 0.412311868 0.417hCV11720414 rs1930781 hCV30830468 rs10818507 0.51 0.412311868 0.4539hCV11720414 rs1930781 hCV30830473 rs7036649 0.51 0.412311868 0.4705hCV11720414 rs1930781 hCV30830475 rs10733652 0.51 0.412311868 0.4269hCV11720414 rs1930781 hCV30830484 rs10818508 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV30830486 rs10760149 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV30830503 rs4837811 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV30830512 rs10818512 0.51 0.412311868 0.4465hCV11720414 rs1930781 hCV30830521 rs10818513 0.51 0.412311868 0.4465hCV11720414 rs1930781 hCV30830536 rs7047038 0.51 0.412311868 0.4465hCV11720414 rs1930781 hCV30830638 rs10985073 0.51 0.412311868 0.6467hCV11720414 rs1930781 hCV30830725 rs7864019 0.51 0.412311868 1hCV11720414 rs1930781 hCV30830832 rs10733648 0.51 0.412311868 1hCV11720414 rs1930781 hCV30830909 rs11794516 0.51 0.412311868 0.6467hCV11720414 rs1930781 hCV7577250 rs942153 0.51 0.412311868 0.4465hCV11720414 rs1930781 hCV7577271 rs1535655 0.51 0.412311868 0.4465hCV11720414 rs1930781 hCV7577287 rs1323478 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV7577296 rs1407910 0.51 0.412311868 0.4708hCV11720414 rs1930781 hCV7577344 rs876445 0.51 0.412311868 1 hCV15849116rs2900180 hCV11266229 rs10435844 0.51 0.548091403 1 hCV15849116rs2900180 hCV11266268 rs10760121 0.51 0.548091403 0.9622 hCV15849116rs2900180 hCV11720413 rs1930782 0.51 0.548091403 0.6587 hCV15849116rs2900180 hCV11720414 rs1930781 0.51 0.548091403 1 hCV15849116 rs2900180hCV15870898 rs2072438 0.51 0.548091403 0.6342 hCV15849116 rs2900180hCV16124825 rs2109895 0.51 0.548091403 1 hCV15849116 rs2900180hCV16175379 rs2239657 0.51 0.548091403 0.962 hCV15849116 rs2900180hCV16234795 rs2416804 0.51 0.548091403 0.6181 hCV15849116 rs2900180hCV1761888 rs1953126 0.51 0.548091403 0.9622 hCV15849116 rs2900180hCV1761891 rs1930778 0.51 0.548091403 0.9553 hCV15849116 rs2900180hCV1761894 rs1609810 0.51 0.548091403 0.9559 hCV15849116 rs2900180hCV2359565 rs1014530 0.51 0.548091403 0.6587 hCV15849116 rs2900180hCV25751916 rs10985070 0.51 0.548091403 0.6342 hCV15849116 rs2900180hCV2783582 rs10818482 0.51 0.548091403 0.6342 hCV15849116 rs2900180hCV2783586 rs2270231 0.51 0.548091403 0.9622 hCV15849116 rs2900180hCV2783589 rs881375 0.51 0.548091403 0.9622 hCV15849116 rs2900180hCV2783590 rs6478486 0.51 0.548091403 0.9622 hCV15849116 rs2900180hCV2783591 rs1468671 0.51 0.548091403 1 hCV15849116 rs2900180 hCV2783593rs1548783 0.51 0.548091403 1 hCV15849116 rs2900180 hCV2783597 rs18608240.51 0.548091403 1 hCV15849116 rs2900180 hCV2783599 rs7046108 0.510.548091403 1 hCV15849116 rs2900180 hCV2783604 rs10760126 0.510.548091403 0.6795 hCV15849116 rs2900180 hCV2783607 rs9886724 0.510.548091403 0.669 hCV15849116 rs2900180 hCV2783608 rs4836834 0.510.548091403 0.6587 hCV15849116 rs2900180 hCV2783609 rs2241003 0.510.548091403 0.9232 hCV15849116 rs2900180 hCV2783611 rs10435843 0.510.548091403 1 hCV15849116 rs2900180 hCV2783618 rs2239658 0.510.548091403 1 hCV15849116 rs2900180 hCV2783620 rs7021880 0.510.548091403 0.9252 hCV15849116 rs2900180 hCV2783621 rs2416805 0.510.548091403 1 hCV15849116 rs2900180 hCV2783622 rs758959 0.51 0.5480914031 hCV15849116 rs2900180 hCV2783625 rs10118357 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783630 rs2269060 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783633 rs7021049 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783634 rs1014529 0.51 0.548091403 1hCV15849116 rs2900180 hCV2783635 rs1930780 0.51 0.548091403 1hCV15849116 rs2900180 hCV2783638 rs3761846 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783640 rs3761847 0.51 0.548091403 0.6181hCV15849116 rs2900180 hCV2783641 rs2416806 0.51 0.548091403 1hCV15849116 rs2900180 hCV2783647 rs10739580 0.51 0.548091403 1hCV15849116 rs2900180 hCV2783650 rs10760129 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783653 rs10760130 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783655 rs10818488 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV2783656 rs4837804 0.51 0.548091403 0.8894hCV15849116 rs2900180 hCV2783659 rs7039505 0.51 0.548091403 1hCV15849116 rs2900180 hCV29005976 rs7037195 0.51 0.548091403 0.6587hCV15849116 rs2900180 hCV29005978 rs7021206 0.51 0.548091403 1hCV15849116 rs2900180 hCV29006006 rs7034390 0.51 0.548091403 0.9622hCV15849116 rs2900180 hCV30830638 rs10985073 0.51 0.548091403 0.6342hCV15849116 rs2900180 hCV30830725 rs7864019 0.51 0.548091403 1hCV15849116 rs2900180 hCV30830832 rs10733648 0.51 0.548091403 1hCV15849116 rs2900180 hCV30830909 rs11794516 0.51 0.548091403 0.6342hCV15849116 rs2900180 hCV7577344 rs876445 0.51 0.548091403 1 hCV15870898rs2072438 hCV11266229 rs10435844 0.51 0.357983748 0.6467 hCV15870898rs2072438 hCV11266268 rs10760121 0.51 0.357983748 0.6691 hCV15870898rs2072438 hCV11720351 rs1885995 0.51 0.357983748 0.4963 hCV15870898rs2072438 hCV11720413 rs1930782 0.51 0.357983748 0.9671 hCV15870898rs2072438 hCV11720414 rs1930781 0.51 0.357983748 0.6467 hCV15870898rs2072438 hCV1452630 rs10818476 0.51 0.357983748 0.3756 hCV15870898rs2072438 hCV1452665 rs4837796 0.51 0.357983748 0.3756 hCV15870898rs2072438 hCV15751717 rs2296077 0.51 0.357983748 0.4374 hCV15870898rs2072438 hCV15751719 rs2146838 0.51 0.357983748 0.4963 hCV15870898rs2072438 hCV15757738 rs2302498 0.51 0.357983748 0.4505 hCV15870898rs2072438 hCV15849116 rs2900180 0.51 0.357983748 0.6342 hCV15870898rs2072438 hCV16124825 rs2109895 0.51 0.357983748 0.6467 hCV15870898rs2072438 hCV16175379 rs2239657 0.51 0.357983748 0.625 hCV15870898rs2072438 hCV16234795 rs2416804 0.51 0.357983748 0.9353 hCV15870898rs2072438 hCV1761888 rs1953126 0.51 0.357983748 0.6691 hCV15870898rs2072438 hCV1761891 rs1930778 0.51 0.357983748 0.6222 hCV15870898rs2072438 hCV1761894 rs1609810 0.51 0.357983748 0.6485 hCV15870898rs2072438 hCV22272588 rs10760117 0.51 0.357983748 0.3756 hCV15870898rs2072438 hCV2359565 rs1014530 0.51 0.357983748 0.9671 hCV15870898rs2072438 hCV25751916 rs10985070 0.51 0.357983748 1 hCV15870898rs2072438 hCV26144307 rs1016468 0.51 0.357983748 0.4963 hCV15870898rs2072438 hCV26144332 rs4837813 0.51 0.357983748 0.4761 hCV15870898rs2072438 hCV2783582 rs10818482 0.51 0.357983748 1 hCV15870898 rs2072438hCV2783586 rs2270231 0.51 0.357983748 0.6691 hCV15870898 rs2072438hCV2783589 rs881375 0.51 0.357983748 0.6691 hCV15870898 rs2072438hCV2783590 rs6478486 0.51 0.357983748 0.6691 hCV15870898 rs2072438hCV2783591 rs1468671 0.51 0.357983748 0.6467 hCV15870898 rs2072438hCV2783593 rs1548783 0.51 0.357983748 0.6423 hCV15870898 rs2072438hCV2783597 rs1860824 0.51 0.357983748 0.6357 hCV15870898 rs2072438hCV2783599 rs7046108 0.51 0.357983748 0.6467 hCV15870898 rs2072438hCV2783604 rs10760126 0.51 0.357983748 0.9666 hCV15870898 rs2072438hCV2783607 rs9886724 0.51 0.357983748 1 hCV15870898 rs2072438 hCV2783608rs4836834 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783609rs2241003 0.51 0.357983748 0.7074 hCV15870898 rs2072438 hCV2783611rs10435843 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783618rs2239658 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783620rs7021880 0.51 0.357983748 0.5878 hCV15870898 rs2072438 hCV2783621rs2416805 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783622rs758959 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783625rs10118357 0.51 0.357983748 0.9665 hCV15870898 rs2072438 hCV2783630rs2269060 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783633rs7021049 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783634rs1014529 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783635rs1930780 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783638rs3761846 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783640rs3761847 0.51 0.357983748 0.9353 hCV15870898 rs2072438 hCV2783641rs2416806 0.51 0.357983748 0.6594 hCV15870898 rs2072438 hCV2783647rs10739580 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV2783650rs10760129 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783653rs10760130 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783655rs10818488 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV2783656rs4837804 0.51 0.357983748 0.7472 hCV15870898 rs2072438 hCV2783659rs7039505 0.51 0.357983748 0.6319 hCV15870898 rs2072438 hCV2783711rs10733650 0.51 0.357983748 0.3903 hCV15870898 rs2072438 hCV2783718rs10818500 0.51 0.357983748 0.6972 hCV15870898 rs2072438 hCV29005955rs7036980 0.51 0.357983748 0.4304 hCV15870898 rs2072438 hCV29005976rs7037195 0.51 0.357983748 0.9671 hCV15870898 rs2072438 hCV29005978rs7021206 0.51 0.357983748 0.6788 hCV15870898 rs2072438 hCV29006006rs7034390 0.51 0.357983748 0.6691 hCV15870898 rs2072438 hCV29879049rs9792437 0.51 0.357983748 0.4711 hCV15870898 rs2072438 hCV3045812rs7030849 0.51 0.357983748 0.4711 hCV15870898 rs2072438 hCV30830319rs7037673 0.51 0.357983748 0.5359 hCV15870898 rs2072438 hCV30830325rs10818494 0.51 0.357983748 0.4346 hCV15870898 rs2072438 hCV30830340rs10760134 0.51 0.357983748 0.4135 hCV15870898 rs2072438 hCV30830341rs7040033 0.51 0.357983748 0.4135 hCV15870898 rs2072438 hCV30830419rs10985140 0.51 0.357983748 0.6598 hCV15870898 rs2072438 hCV30830474rs10739590 0.51 0.357983748 0.5521 hCV15870898 rs2072438 hCV30830638rs10985073 0.51 0.357983748 1 hCV15870898 rs2072438 hCV30830725rs7864019 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV30830832rs10733648 0.51 0.357983748 0.6467 hCV15870898 rs2072438 hCV30830909rs11794516 0.51 0.357983748 1 hCV15870898 rs2072438 hCV7577254 rs9421520.51 0.357983748 0.4017 hCV15870898 rs2072438 hCV7577317 rs1323472 0.510.357983748 0.6896 hCV15870898 rs2072438 hCV7577331 rs1468673 0.510.357983748 0.6896 hCV15870898 rs2072438 hCV7577344 rs876445 0.510.357983748 0.6467 hCV15870898 rs2072438 hCV782875 rs746182 0.510.357983748 0.4761 hCV16175379 rs2239657 hCV11266229 rs10435844 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV11266268 rs10760121 0.510.423423973 0.9341 hCV16175379 rs2239657 hCV11720413 rs1930782 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV11720414 rs1930781 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV15849105 rs2900185 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV15849116 rs2900180 0.510.423423973 0.962 hCV16175379 rs2239657 hCV15870898 rs2072438 0.510.423423973 0.625 hCV16175379 rs2239657 hCV16124825 rs2109895 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV16234795 rs2416804 0.510.423423973 0.6112 hCV16175379 rs2239657 hCV16234840 rs2416817 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV1632195 rs1998505 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV1761888 rs1953126 0.510.423423973 0.9341 hCV16175379 rs2239657 hCV1761891 rs1930778 0.510.423423973 0.9602 hCV16175379 rs2239657 hCV1761894 rs1609810 0.510.423423973 0.9609 hCV16175379 rs2239657 hCV2359565 rs1014530 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV25751916 rs10985070 0.510.423423973 0.625 hCV16175379 rs2239657 hCV25771057 rs10760150 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV2783582 rs10818482 0.510.423423973 0.625 hCV16175379 rs2239657 hCV2783586 rs2270231 0.510.423423973 0.9341 hCV16175379 rs2239657 hCV2783589 rs881375 0.510.423423973 0.9341 hCV16175379 rs2239657 hCV2783590 rs6478486 0.510.423423973 0.9341 hCV16175379 rs2239657 hCV2783591 rs1468671 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783593 rs1548783 0.510.423423973 0.966 hCV16175379 rs2239657 hCV2783597 rs1860824 0.510.423423973 0.9647 hCV16175379 rs2239657 hCV2783599 rs7046108 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783604 rs10760126 0.510.423423973 0.6641 hCV16175379 rs2239657 hCV2783607 rs9886724 0.510.423423973 0.6545 hCV16175379 rs2239657 hCV2783608 rs4836834 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783609 rs2241003 0.510.423423973 0.8997 hCV16175379 rs2239657 hCV2783611 rs10435843 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783618 rs2239658 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783620 rs7021880 0.510.423423973 0.8938 hCV16175379 rs2239657 hCV2783621 rs2416805 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783622 rs758959 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783625 rs10118357 0.510.423423973 0.6419 hCV16175379 rs2239657 hCV2783630 rs2269060 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783633 rs7021049 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783634 rs1014529 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783635 rs1930780 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783638 rs3761846 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783640 rs3761847 0.510.423423973 0.6112 hCV16175379 rs2239657 hCV2783641 rs2416806 0.510.423423973 0.9652 hCV16175379 rs2239657 hCV2783647 rs10739580 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV2783650 rs10760129 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783653 rs10760130 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783655 rs10818488 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV2783656 rs4837804 0.510.423423973 0.8631 hCV16175379 rs2239657 hCV2783659 rs7039505 0.510.423423973 1 hCV16175379 rs2239657 hCV27912350 rs4837808 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV27912351 rs4837809 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV29005976 rs7037195 0.510.423423973 0.6463 hCV16175379 rs2239657 hCV29005978 rs7021206 0.510.423423973 0.9649 hCV16175379 rs2239657 hCV29006006 rs7034390 0.510.423423973 0.9341 hCV16175379 rs2239657 hCV30059070 rs10156413 0.510.423423973 0.4892 hCV16175379 rs2239657 hCV3045792 rs6478499 0.510.423423973 0.4586 hCV16175379 rs2239657 hCV30563729 rs9299273 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV30830468 rs10818507 0.510.423423973 0.4248 hCV16175379 rs2239657 hCV30830473 rs7036649 0.510.423423973 0.4387 hCV16175379 rs2239657 hCV30830484 rs10818508 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV30830486 rs10760149 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV30830503 rs4837811 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV30830638 rs10985073 0.510.423423973 0.625 hCV16175379 rs2239657 hCV30830725 rs7864019 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV30830832 rs10733648 0.510.423423973 0.9664 hCV16175379 rs2239657 hCV30830909 rs11794516 0.510.423423973 0.625 hCV16175379 rs2239657 hCV7577287 rs1323478 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV7577296 rs1407910 0.510.423423973 0.4418 hCV16175379 rs2239657 hCV7577344 rs876445 0.510.423423973 0.9664 hCV16234785 rs2416811 hCV11720383 rs1951784 0.510.852868152 0.9293 hCV16234785 rs2416811 hCV11720402 rs17611 0.510.852868152 1 hCV16234785 rs2416811 hCV15751718 rs2296078 0.510.852868152 0.8957 hCV16234785 rs2416811 hCV15755658 rs2300934 0.510.852868152 0.9646 hCV16234785 rs2416811 hCV1632190 rs10760146 0.510.852868152 0.9293 hCV16234785 rs2416811 hCV2359571 rs25681 0.510.852868152 1 hCV16234785 rs2416811 hCV25968825 rs10818504 0.510.852868152 0.9293 hCV16234785 rs2416811 hCV26144282 rs10818499 0.510.852868152 1 hCV16234785 rs2416811 hCV26144291 rs4570235 0.510.852868152 1 hCV16234785 rs2416811 hCV26144296 rs10760143 0.510.852868152 0.9279 hCV16234785 rs2416811 hCV27476319 rs3747843 0.510.852868152 0.8957 hCV16234785 rs2416811 hCV2783711 rs10733650 0.510.852868152 1 hCV16234785 rs2416811 hCV29005933 rs7042135 0.510.852868152 0.9646 hCV16234785 rs2416811 hCV29005936 rs6478498 0.510.852868152 0.9646 hCV16234785 rs2416811 hCV29734592 rs10435889 0.510.852868152 1 hCV16234785 rs2416811 hCV29824827 rs9657673 0.510.852868152 0.9251 hCV16234785 rs2416811 hCV30041036 rs10156476 0.510.852868152 0.9286 hCV16234785 rs2416811 hCV30167357 rs7022941 0.510.852868152 0.9642 hCV16234785 rs2416811 hCV3045797 rs7036541 0.510.852868152 0.9272 hCV16234785 rs2416811 hCV3045800 rs3736855 0.510.852868152 0.9293 hCV16234785 rs2416811 hCV3045808 rs10818516 0.510.852868152 0.8595 hCV16234785 rs2416811 hCV3045810 rs2209076 0.510.852868152 0.8635 hCV16234785 rs2416811 hCV30830340 rs10760134 0.510.852868152 0.8956 hCV16234785 rs2416811 hCV30830341 rs7040033 0.510.852868152 0.8956 hCV16234785 rs2416811 hCV30830415 rs7855998 0.510.852868152 0.9646 hCV16234785 rs2416811 hCV30830427 rs10760142 0.510.852868152 0.9646 hCV16234785 rs2416811 hCV30830440 rs10760144 0.510.852868152 0.9293 hCV16234785 rs2416811 hCV30830506 rs10760151 0.510.852868152 0.9293 hCV16234785 rs2416811 hCV30830537 rs10818515 0.510.852868152 0.8946 hCV16234785 rs2416811 hCV30830539 rs10760153 0.510.852868152 0.9287 hCV16234785 rs2416811 hCV30830540 rs10760154 0.510.852868152 0.8956 hCV16234785 rs2416811 hCV30830541 rs10760155 0.510.852868152 0.8957 hCV16234785 rs2416811 hCV30830542 rs10760156 0.510.852868152 0.8894 hCV16234785 rs2416811 hCV7577235 rs1052508 0.510.852868152 0.8957 hCV16234785 rs2416811 hCV7577248 rs1359086 0.510.852868152 0.8635 hCV16234785 rs2416811 hCV7577249 rs1359085 0.510.852868152 0.8957 hCV16234785 rs2416811 hCV7577337 rs993247 0.510.852868152 1 hCV16234795 rs2416804 hCV11266229 rs10435844 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV11266268 rs10760121 0.510.321177244 0.6014 hCV16234795 rs2416804 hCV11720351 rs1885995 0.510.321177244 0.4991 hCV16234795 rs2416804 hCV11720402 rs17611 0.510.321177244 0.3592 hCV16234795 rs2416804 hCV11720413 rs1930782 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV11720414 rs1930781 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV1452630 rs10818476 0.510.321177244 0.3275 hCV16234795 rs2416804 hCV1452665 rs4837796 0.510.321177244 0.3275 hCV16234795 rs2416804 hCV15751717 rs2296077 0.510.321177244 0.4385 hCV16234795 rs2416804 hCV15751719 rs2146838 0.510.321177244 0.4991 hCV16234795 rs2416804 hCV15755658 rs2300934 0.510.321177244 0.3423 hCV16234795 rs2416804 hCV15757738 rs2302498 0.510.321177244 0.4513 hCV16234795 rs2416804 hCV15849116 rs2900180 0.510.321177244 0.6181 hCV16234795 rs2416804 hCV15870898 rs2072438 0.510.321177244 0.9353 hCV16234795 rs2416804 hCV16124825 rs2109895 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV16175379 rs2239657 0.510.321177244 0.6112 hCV16234795 rs2416804 hCV16234785 rs2416811 0.510.321177244 0.3592 hCV16234795 rs2416804 hCV1761881 rs3933326 0.510.321177244 0.3407 hCV16234795 rs2416804 hCV1761888 rs1953126 0.510.321177244 0.6014 hCV16234795 rs2416804 hCV1761891 rs1930778 0.510.321177244 0.5354 hCV16234795 rs2416804 hCV1761894 rs1609810 0.510.321177244 0.6068 hCV16234795 rs2416804 hCV22272588 rs10760117 0.510.321177244 0.3275 hCV16234795 rs2416804 hCV2359565 rs1014530 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2359571 rs25681 0.510.321177244 0.3592 hCV16234795 rs2416804 hCV25751916 rs10985070 0.510.321177244 0.9353 hCV16234795 rs2416804 hCV25757804 rs4836833 0.510.321177244 0.3234 hCV16234795 rs2416804 hCV26144282 rs10818499 0.510.321177244 0.3592 hCV16234795 rs2416804 hCV26144291 rs4570235 0.510.321177244 0.3592 hCV16234795 rs2416804 hCV26144307 rs1016468 0.510.321177244 0.4991 hCV16234795 rs2416804 hCV26144332 rs4837813 0.510.321177244 0.476 hCV16234795 rs2416804 hCV2783582 rs10818482 0.510.321177244 0.9353 hCV16234795 rs2416804 hCV2783586 rs2270231 0.510.321177244 0.6014 hCV16234795 rs2416804 hCV2783589 rs881375 0.510.321177244 0.6014 hCV16234795 rs2416804 hCV2783590 rs6478486 0.510.321177244 0.6014 hCV16234795 rs2416804 hCV2783591 rs1468671 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783593 rs1548783 0.510.321177244 0.6289 hCV16234795 rs2416804 hCV2783597 rs1860824 0.510.321177244 0.6215 hCV16234795 rs2416804 hCV2783599 rs7046108 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783604 rs10760126 0.510.321177244 0.9666 hCV16234795 rs2416804 hCV2783607 rs9886724 0.510.321177244 0.9655 hCV16234795 rs2416804 hCV2783608 rs4836834 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783609 rs2241003 0.510.321177244 0.6714 hCV16234795 rs2416804 hCV2783611 rs10435843 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783618 rs2239658 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783620 rs7021880 0.510.321177244 0.5724 hCV16234795 rs2416804 hCV2783621 rs2416805 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783622 rs758959 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783625 rs10118357 0.510.321177244 0.9666 hCV16234795 rs2416804 hCV2783630 rs2269060 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783633 rs7021049 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783634 rs1014529 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783635 rs1930780 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783638 rs3761846 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783640 rs3761847 0.510.321177244 0.9341 hCV16234795 rs2416804 hCV2783641 rs2416806 0.510.321177244 0.6235 hCV16234795 rs2416804 hCV2783647 rs10739580 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV2783650 rs10760129 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783653 rs10760130 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783655 rs10818488 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV2783656 rs4837804 0.510.321177244 0.7379 hCV16234795 rs2416804 hCV2783659 rs7039505 0.510.321177244 0.6146 hCV16234795 rs2416804 hCV2783711 rs10733650 0.510.321177244 0.3571 hCV16234795 rs2416804 hCV2783718 rs10818500 0.510.321177244 0.6979 hCV16234795 rs2416804 hCV29005933 rs7042135 0.510.321177244 0.3423 hCV16234795 rs2416804 hCV29005936 rs6478498 0.510.321177244 0.3423 hCV16234795 rs2416804 hCV29005955 rs7036980 0.510.321177244 0.4285 hCV16234795 rs2416804 hCV29005976 rs7037195 0.510.321177244 0.9672 hCV16234795 rs2416804 hCV29005978 rs7021206 0.510.321177244 0.6666 hCV16234795 rs2416804 hCV29006006 rs7034390 0.510.321177244 0.6014 hCV16234795 rs2416804 hCV29734592 rs10435889 0.510.321177244 0.3475 hCV16234795 rs2416804 hCV29879049 rs9792437 0.510.321177244 0.4729 hCV16234795 rs2416804 hCV30167357 rs7022941 0.510.321177244 0.3336 hCV16234795 rs2416804 hCV3045812 rs7030849 0.510.321177244 0.4729 hCV16234795 rs2416804 hCV30830319 rs7037673 0.510.321177244 0.4992 hCV16234795 rs2416804 hCV30830325 rs10818494 0.510.321177244 0.4528 hCV16234795 rs2416804 hCV30830340 rs10760134 0.510.321177244 0.4257 hCV16234795 rs2416804 hCV30830341 rs7040033 0.510.321177244 0.4257 hCV16234795 rs2416804 hCV30830415 rs7855998 0.510.321177244 0.3423 hCV16234795 rs2416804 hCV30830419 rs10985140 0.510.321177244 0.6604 hCV16234795 rs2416804 hCV30830427 rs10760142 0.510.321177244 0.3423 hCV16234795 rs2416804 hCV30830474 rs10739590 0.510.321177244 0.5503 hCV16234795 rs2416804 hCV30830638 rs10985073 0.510.321177244 0.9353 hCV16234795 rs2416804 hCV30830725 rs7864019 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV30830832 rs10733648 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV30830909 rs11794516 0.510.321177244 0.9353 hCV16234795 rs2416804 hCV7577254 rs942152 0.510.321177244 0.4043 hCV16234795 rs2416804 hCV7577317 rs1323472 0.510.321177244 0.6889 hCV16234795 rs2416804 hCV7577331 rs1468673 0.510.321177244 0.6889 hCV16234795 rs2416804 hCV7577337 rs993247 0.510.321177244 0.3592 hCV16234795 rs2416804 hCV7577344 rs876445 0.510.321177244 0.6341 hCV16234795 rs2416804 hCV782875 rs746182 0.510.321177244 0.476 hCV16234795 rs2416804 hCV8780517 rs1056567 0.510.321177244 0.3234 hCV1632190 rs10760146 hCV11720383 rs1951784 0.510.849855381 1 hCV1632190 rs10760146 hCV11720402 rs17611 0.51 0.8498553810.9293 hCV1632190 rs10760146 hCV15751718 rs2296078 0.51 0.8498553810.9649 hCV1632190 rs10760146 hCV15755658 rs2300934 0.51 0.8498553810.8947 hCV1632190 rs10760146 hCV16234785 rs2416811 0.51 0.8498553810.9293 hCV1632190 rs10760146 hCV2359571 rs25681 0.51 0.849855381 0.9293hCV1632190 rs10760146 hCV25968825 rs10818504 0.51 0.849855381 1hCV1632190 rs10760146 hCV26144282 rs10818499 0.51 0.849855381 0.9293hCV1632190 rs10760146 hCV26144291 rs4570235 0.51 0.849855381 0.9293hCV1632190 rs10760146 hCV26144296 rs10760143 0.51 0.849855381 1hCV1632190 rs10760146 hCV27476319 rs3747843 0.51 0.849855381 0.9649hCV1632190 rs10760146 hCV2783711 rs10733650 0.51 0.849855381 0.9293hCV1632190 rs10760146 hCV29005933 rs7042135 0.51 0.849855381 0.8947hCV1632190 rs10760146 hCV29005936 rs6478498 0.51 0.849855381 0.8947hCV1632190 rs10760146 hCV29734592 rs10435889 0.51 0.849855381 0.9272hCV1632190 rs10760146 hCV29824827 rs9657673 0.51 0.849855381 1hCV1632190 rs10760146 hCV30041036 rs10156476 0.51 0.849855381 1hCV1632190 rs10760146 hCV30167357 rs7022941 0.51 0.849855381 1hCV1632190 rs10760146 hCV3045797 rs7036541 0.51 0.849855381 1 hCV1632190rs10760146 hCV3045800 rs3736855 0.51 0.849855381 1 hCV1632190 rs10760146hCV3045804 rs2057467 0.51 0.849855381 0.9484 hCV1632190 rs10760146hCV3045808 rs10818516 0.51 0.849855381 0.9294 hCV1632190 rs10760146hCV3045810 rs2209076 0.51 0.849855381 0.9314 hCV1632190 rs10760146hCV30830415 rs7855998 0.51 0.849855381 0.8947 hCV1632190 rs10760146hCV30830427 rs10760142 0.51 0.849855381 0.8947 hCV1632190 rs10760146hCV30830440 rs10760144 0.51 0.849855381 1 hCV1632190 rs10760146hCV30830506 rs10760151 0.51 0.849855381 1 hCV1632190 rs10760146hCV30830537 rs10818515 0.51 0.849855381 0.9646 hCV1632190 rs10760146hCV30830539 rs10760153 0.51 0.849855381 0.9642 hCV1632190 rs10760146hCV30830540 rs10760154 0.51 0.849855381 0.9649 hCV1632190 rs10760146hCV30830541 rs10760155 0.51 0.849855381 0.9649 hCV1632190 rs10760146hCV30830542 rs10760156 0.51 0.849855381 0.9628 hCV1632190 rs10760146hCV7577235 rs1052508 0.51 0.849855381 0.9649 hCV1632190 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1hCV25763321 rs3747841 hCV30830913 rs10818489 0.51 0.90039199 1hCV25763321 rs3747841 hCV30830915 rs10985105 0.51 0.90039199 1hCV25763321 rs3747841 hCV30830938 rs12235400 0.51 0.90039199 1hCV2783582 rs10818482 hCV11266229 rs10435844 0.51 0.33772028 0.6467hCV2783582 rs10818482 hCV11266268 rs10760121 0.51 0.33772028 0.6691hCV2783582 rs10818482 hCV11720351 rs1885995 0.51 0.33772028 0.4963hCV2783582 rs10818482 hCV11720402 rs17611 0.51 0.33772028 0.347hCV2783582 rs10818482 hCV11720413 rs1930782 0.51 0.33772028 0.9671hCV2783582 rs10818482 hCV11720414 rs1930781 0.51 0.33772028 0.6467hCV2783582 rs10818482 hCV1452630 rs10818476 0.51 0.33772028 0.3756hCV2783582 rs10818482 hCV1452651 rs3793638 0.51 0.33772028 0.3542hCV2783582 rs10818482 hCV1452652 rs1060817 0.51 0.33772028 0.3542hCV2783582 rs10818482 hCV1452665 rs4837796 0.51 0.33772028 0.3756hCV2783582 rs10818482 hCV15751717 rs2296077 0.51 0.33772028 0.4374hCV2783582 rs10818482 hCV15751719 rs2146838 0.51 0.33772028 0.4963hCV2783582 rs10818482 hCV15757738 rs2302498 0.51 0.33772028 0.4505hCV2783582 rs10818482 hCV15849116 rs2900180 0.51 0.33772028 0.6342hCV2783582 rs10818482 hCV15870898 rs2072438 0.51 0.33772028 1 hCV2783582rs10818482 hCV16124825 rs2109895 0.51 0.33772028 0.6467 hCV2783582rs10818482 hCV16175379 rs2239657 0.51 0.33772028 0.625 hCV2783582rs10818482 hCV16234785 rs2416811 0.51 0.33772028 0.347 hCV2783582rs10818482 hCV16234795 rs2416804 0.51 0.33772028 0.9353 hCV2783582rs10818482 hCV1761881 rs3933326 0.51 0.33772028 0.3563 hCV2783582rs10818482 hCV1761888 rs1953126 0.51 0.33772028 0.6691 hCV2783582rs10818482 hCV1761891 rs1930778 0.51 0.33772028 0.6222 hCV2783582rs10818482 hCV1761894 rs1609810 0.51 0.33772028 0.6485 hCV2783582rs10818482 hCV22272588 rs10760117 0.51 0.33772028 0.3756 hCV2783582rs10818482 hCV2359565 rs1014530 0.51 0.33772028 0.9671 hCV2783582rs10818482 hCV2359571 rs25681 0.51 0.33772028 0.347 hCV2783582rs10818482 hCV25751916 rs10985070 0.51 0.33772028 1 hCV2783582rs10818482 hCV25757804 rs4836833 0.51 0.33772028 0.3396 hCV2783582rs10818482 hCV26144282 rs10818499 0.51 0.33772028 0.347 hCV2783582rs10818482 hCV26144291 rs4570235 0.51 0.33772028 0.347 hCV2783582rs10818482 hCV26144307 rs1016468 0.51 0.33772028 0.4963 hCV2783582rs10818482 hCV26144332 rs4837813 0.51 0.33772028 0.4761 hCV2783582rs10818482 hCV2783586 rs2270231 0.51 0.33772028 0.6691 hCV2783582rs10818482 hCV2783589 rs881375 0.51 0.33772028 0.6691 hCV2783582rs10818482 hCV2783590 rs6478486 0.51 0.33772028 0.6691 hCV2783582rs10818482 hCV2783591 rs1468671 0.51 0.33772028 0.6467 hCV2783582rs10818482 hCV2783593 rs1548783 0.51 0.33772028 0.6423 hCV2783582rs10818482 hCV2783597 rs1860824 0.51 0.33772028 0.6357 hCV2783582rs10818482 hCV2783599 rs7046108 0.51 0.33772028 0.6467 hCV2783582rs10818482 hCV2783604 rs10760126 0.51 0.33772028 0.9666 hCV2783582rs10818482 hCV2783607 rs9886724 0.51 0.33772028 1 hCV2783582 rs10818482hCV2783608 rs4836834 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783609 rs2241003 0.51 0.33772028 0.7074 hCV2783582 rs10818482hCV2783611 rs10435843 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783618 rs2239658 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783620 rs7021880 0.51 0.33772028 0.5878 hCV2783582 rs10818482hCV2783621 rs2416805 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783622 rs758959 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783625 rs10118357 0.51 0.33772028 0.9665 hCV2783582 rs10818482hCV2783630 rs2269060 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783633 rs7021049 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783634 rs1014529 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783635 rs1930780 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783638 rs3761846 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783640 rs3761847 0.51 0.33772028 0.9353 hCV2783582 rs10818482hCV2783641 rs2416806 0.51 0.33772028 0.6594 hCV2783582 rs10818482hCV2783647 rs10739580 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV2783650 rs10760129 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783653 rs10760130 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783655 rs10818488 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV2783656 rs4837804 0.51 0.33772028 0.7472 hCV2783582 rs10818482hCV2783659 rs7039505 0.51 0.33772028 0.6319 hCV2783582 rs10818482hCV2783711 rs10733650 0.51 0.33772028 0.3903 hCV2783582 rs10818482hCV2783718 rs10818500 0.51 0.33772028 0.6972 hCV2783582 rs10818482hCV29005955 rs7036980 0.51 0.33772028 0.4304 hCV2783582 rs10818482hCV29005976 rs7037195 0.51 0.33772028 0.9671 hCV2783582 rs10818482hCV29005978 rs7021206 0.51 0.33772028 0.6788 hCV2783582 rs10818482hCV29006006 rs7034390 0.51 0.33772028 0.6691 hCV2783582 rs10818482hCV29879049 rs9792437 0.51 0.33772028 0.4711 hCV2783582 rs10818482hCV3045812 rs7030849 0.51 0.33772028 0.4711 hCV2783582 rs10818482hCV30829523 rs12343516 0.51 0.33772028 0.3542 hCV2783582 rs10818482hCV30830319 rs7037673 0.51 0.33772028 0.5359 hCV2783582 rs10818482hCV30830325 rs10818494 0.51 0.33772028 0.4346 hCV2783582 rs10818482hCV30830340 rs10760134 0.51 0.33772028 0.4135 hCV2783582 rs10818482hCV30830341 rs7040033 0.51 0.33772028 0.4135 hCV2783582 rs10818482hCV30830419 rs10985140 0.51 0.33772028 0.6598 hCV2783582 rs10818482hCV30830474 rs10739590 0.51 0.33772028 0.5521 hCV2783582 rs10818482hCV30830638 rs10985073 0.51 0.33772028 1 hCV2783582 rs10818482hCV30830725 rs7864019 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV30830832 rs10733648 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV30830909 rs11794516 0.51 0.33772028 1 hCV2783582 rs10818482hCV7577254 rs942152 0.51 0.33772028 0.4017 hCV2783582 rs10818482hCV7577317 rs1323472 0.51 0.33772028 0.6896 hCV2783582 rs10818482hCV7577331 rs1468673 0.51 0.33772028 0.6896 hCV2783582 rs10818482hCV7577337 rs993247 0.51 0.33772028 0.347 hCV2783582 rs10818482hCV7577344 rs876445 0.51 0.33772028 0.6467 hCV2783582 rs10818482hCV782875 rs746182 0.51 0.33772028 0.4761 hCV2783582 rs10818482hCV8780517 rs1056567 0.51 0.33772028 0.3396 hCV2783586 rs2270231hCV11266229 rs10435844 0.51 0.467936232 0.9666 hCV2783586 rs2270231hCV11266268 rs10760121 0.51 0.467936232 1 hCV2783586 rs2270231hCV11720350 rs2057469 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV11720413 rs1930782 0.51 0.467936232 0.6344 hCV2783586 rs2270231hCV11720414 rs1930781 0.51 0.467936232 0.9666 hCV2783586 rs2270231hCV15849105 rs2900185 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV15849116 rs2900180 0.51 0.467936232 0.9622 hCV2783586 rs2270231hCV15870898 rs2072438 0.51 0.467936232 0.6691 hCV2783586 rs2270231hCV16124825 rs2109895 0.51 0.467936232 0.9666 hCV2783586 rs2270231hCV16175379 rs2239657 0.51 0.467936232 0.9341 hCV2783586 rs2270231hCV16234795 rs2416804 0.51 0.467936232 0.6014 hCV2783586 rs2270231hCV16234838 rs2416819 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV16234840 rs2416817 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV1632195 rs1998505 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV1761888 rs1953126 0.51 0.467936232 1 hCV2783586 rs2270231 hCV1761891rs1930778 0.51 0.467936232 1 hCV2783586 rs2270231 hCV1761894 rs16098100.51 0.467936232 1 hCV2783586 rs2270231 hCV2359565 rs1014530 0.510.467936232 0.6344 hCV2783586 rs2270231 hCV25613469 rs10760157 0.510.467936232 0.4734 hCV2783586 rs2270231 hCV25751916 rs10985070 0.510.467936232 0.6691 hCV2783586 rs2270231 hCV25771057 rs10760150 0.510.467936232 0.4989 hCV2783586 rs2270231 hCV2783582 rs10818482 0.510.467936232 0.6691 hCV2783586 rs2270231 hCV2783589 rs881375 0.510.467936232 1 hCV2783586 rs2270231 hCV2783590 rs6478486 0.51 0.4679362321 hCV2783586 rs2270231 hCV2783591 rs1468671 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783593 rs1548783 0.51 0.467936232 0.9661hCV2783586 rs2270231 hCV2783597 rs1860824 0.51 0.467936232 0.965hCV2783586 rs2270231 hCV2783599 rs7046108 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783604 rs10760126 0.51 0.467936232 0.6526hCV2783586 rs2270231 hCV2783607 rs9886724 0.51 0.467936232 0.6785hCV2783586 rs2270231 hCV2783608 rs4836834 0.51 0.467936232 0.6344hCV2783586 rs2270231 hCV2783609 rs2241003 0.51 0.467936232 0.9321hCV2783586 rs2270231 hCV2783611 rs10435843 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783618 rs2239658 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783620 rs7021880 0.51 0.467936232 0.8974hCV2783586 rs2270231 hCV2783621 rs2416805 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783622 rs758959 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783625 rs10118357 0.51 0.467936232 0.6295hCV2783586 rs2270231 hCV2783630 rs2269060 0.51 0.467936232 0.6344hCV2783586 rs2270231 hCV2783633 rs7021049 0.51 0.467936232 0.6344hCV2783586 rs2270231 hCV2783634 rs1014529 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783635 rs1930780 0.51 0.467936232 0.9666hCV2783586 rs2270231 hCV2783638 rs3761846 0.51 0.467936232 0.6344hCV2783586 rs2270231 hCV2783640 rs3761847 0.51 0.467936232 0.6014hCV2783586 rs2270231 hCV2783641 rs2416806 0.51 0.467936232 1 hCV2783586rs2270231 hCV2783647 rs10739580 0.51 0.467936232 0.9666 hCV2783586rs2270231 hCV2783650 rs10760129 0.51 0.467936232 0.6344 hCV2783586rs2270231 hCV2783653 rs10760130 0.51 0.467936232 0.6344 hCV2783586rs2270231 hCV2783655 rs10818488 0.51 0.467936232 0.6344 hCV2783586rs2270231 hCV2783656 rs4837804 0.51 0.467936232 0.8593 hCV2783586rs2270231 hCV2783659 rs7039505 0.51 0.467936232 0.9615 hCV2783586rs2270231 hCV27912350 rs4837808 0.51 0.467936232 0.4989 hCV2783586rs2270231 hCV27912351 rs4837809 0.51 0.467936232 0.4989 hCV2783586rs2270231 hCV29005924 rs7031128 0.51 0.467936232 0.4729 hCV2783586rs2270231 hCV29005976 rs7037195 0.51 0.467936232 0.6344 hCV2783586rs2270231 hCV29005978 rs7021206 0.51 0.467936232 0.9651 hCV2783586rs2270231 hCV29006006 rs7034390 0.51 0.467936232 1 hCV2783586 rs2270231hCV30059070 rs10156413 0.51 0.467936232 0.5621 hCV2783586 rs2270231hCV3045792 rs6478499 0.51 0.467936232 0.5164 hCV2783586 rs2270231hCV30563729 rs9299273 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV30830468 rs10818507 0.51 0.467936232 0.4819 hCV2783586 rs2270231hCV30830473 rs7036649 0.51 0.467936232 0.5014 hCV2783586 rs2270231hCV30830484 rs10818508 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV30830486 rs10760149 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV30830503 rs4837811 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV30830512 rs10818512 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV30830521 rs10818513 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV30830536 rs7047038 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV30830638 rs10985073 0.51 0.467936232 0.6691 hCV2783586 rs2270231hCV30830725 rs7864019 0.51 0.467936232 0.9666 hCV2783586 rs2270231hCV30830832 rs10733648 0.51 0.467936232 0.9666 hCV2783586 rs2270231hCV30830909 rs11794516 0.51 0.467936232 0.6691 hCV2783586 rs2270231hCV7577250 rs942153 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV7577271 rs1535655 0.51 0.467936232 0.4734 hCV2783586 rs2270231hCV7577287 rs1323478 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV7577296 rs1407910 0.51 0.467936232 0.4989 hCV2783586 rs2270231hCV7577344 rs876445 0.51 0.467936232 0.9666 hCV2783589 rs881375hCV11266229 rs10435844 0.51 0.499966299 0.9666 hCV2783589 rs881375hCV11266268 rs10760121 0.51 0.499966299 1 hCV2783589 rs881375hCV11720413 rs1930782 0.51 0.499966299 0.6344 hCV2783589 rs881375hCV11720414 rs1930781 0.51 0.499966299 0.9666 hCV2783589 rs881375hCV15849116 rs2900180 0.51 0.499966299 0.9622 hCV2783589 rs881375hCV15870898 rs2072438 0.51 0.499966299 0.6691 hCV2783589 rs881375hCV16124825 rs2109895 0.51 0.499966299 0.9666 hCV2783589 rs881375hCV16175379 rs2239657 0.51 0.499966299 0.9341 hCV2783589 rs881375hCV16234795 rs2416804 0.51 0.499966299 0.6014 hCV2783589 rs881375hCV1761888 rs1953126 0.51 0.499966299 1 hCV2783589 rs881375 hCV1761891rs1930778 0.51 0.499966299 1 hCV2783589 rs881375 hCV1761894 rs16098100.51 0.499966299 1 hCV2783589 rs881375 hCV2359565 rs1014530 0.510.499966299 0.6344 hCV2783589 rs881375 hCV25751916 rs10985070 0.510.499966299 0.6691 hCV2783589 rs881375 hCV2783582 rs10818482 0.510.499966299 0.6691 hCV2783589 rs881375 hCV2783586 rs2270231 0.510.499966299 1 hCV2783589 rs881375 hCV2783590 rs6478486 0.51 0.4999662991 hCV2783589 rs881375 hCV2783591 rs1468671 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783593 rs1548783 0.51 0.499966299 0.9661hCV2783589 rs881375 hCV2783597 rs1860824 0.51 0.499966299 0.965hCV2783589 rs881375 hCV2783599 rs7046108 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783604 rs10760126 0.51 0.499966299 0.6526hCV2783589 rs881375 hCV2783607 rs9886724 0.51 0.499966299 0.6785hCV2783589 rs881375 hCV2783608 rs4836834 0.51 0.499966299 0.6344hCV2783589 rs881375 hCV2783609 rs2241003 0.51 0.499966299 0.9321hCV2783589 rs881375 hCV2783611 rs10435843 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783618 rs2239658 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783620 rs7021880 0.51 0.499966299 0.8974hCV2783589 rs881375 hCV2783621 rs2416805 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783622 rs758959 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783625 rs10118357 0.51 0.499966299 0.6295hCV2783589 rs881375 hCV2783630 rs2269060 0.51 0.499966299 0.6344hCV2783589 rs881375 hCV2783633 rs7021049 0.51 0.499966299 0.6344hCV2783589 rs881375 hCV2783634 rs1014529 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783635 rs1930780 0.51 0.499966299 0.9666hCV2783589 rs881375 hCV2783638 rs3761846 0.51 0.499966299 0.6344hCV2783589 rs881375 hCV2783640 rs3761847 0.51 0.499966299 0.6014hCV2783589 rs881375 hCV2783641 rs2416806 0.51 0.499966299 1 hCV2783589rs881375 hCV2783647 rs10739580 0.51 0.499966299 0.9666 hCV2783589rs881375 hCV2783650 rs10760129 0.51 0.499966299 0.6344 hCV2783589rs881375 hCV2783653 rs10760130 0.51 0.499966299 0.6344 hCV2783589rs881375 hCV2783655 rs10818488 0.51 0.499966299 0.6344 hCV2783589rs881375 hCV2783656 rs4837804 0.51 0.499966299 0.8593 hCV2783589rs881375 hCV2783659 rs7039505 0.51 0.499966299 0.9615 hCV2783589rs881375 hCV29005976 rs7037195 0.51 0.499966299 0.6344 hCV2783589rs881375 hCV29005978 rs7021206 0.51 0.499966299 0.9651 hCV2783589rs881375 hCV29006006 rs7034390 0.51 0.499966299 1 hCV2783589 rs881375hCV30059070 rs10156413 0.51 0.499966299 0.5621 hCV2783589 rs881375hCV3045792 rs6478499 0.51 0.499966299 0.5164 hCV2783589 rs881375hCV30830473 rs7036649 0.51 0.499966299 0.5014 hCV2783589 rs881375hCV30830638 rs10985073 0.51 0.499966299 0.6691 hCV2783589 rs881375hCV30830725 rs7864019 0.51 0.499966299 0.9666 hCV2783589 rs881375hCV30830832 rs10733648 0.51 0.499966299 0.9666 hCV2783589 rs881375hCV30830909 rs11794516 0.51 0.499966299 0.6691 hCV2783589 rs881375hCV7577344 rs876445 0.51 0.499966299 0.9666 hCV2783590 rs6478486hCV11266229 rs10435844 0.51 0.400501157 0.9666 hCV2783590 rs6478486hCV11266268 rs10760121 0.51 0.400501157 1 hCV2783590 rs6478486hCV11720350 rs2057469 0.51 0.400501157 0.4734 hCV2783590 rs6478486hCV11720386 rs1998506 0.51 0.400501157 0.4237 hCV2783590 rs6478486hCV11720394 rs1924081 0.51 0.400501157 0.4414 hCV2783590 rs6478486hCV11720413 rs1930782 0.51 0.400501157 0.6344 hCV2783590 rs6478486hCV11720414 rs1930781 0.51 0.400501157 0.9666 hCV2783590 rs6478486hCV15849105 rs2900185 0.51 0.400501157 0.4989 hCV2783590 rs6478486hCV15849116 rs2900180 0.51 0.400501157 0.9622 hCV2783590 rs6478486hCV15870898 rs2072438 0.51 0.400501157 0.6691 hCV2783590 rs6478486hCV16124825 rs2109895 0.51 0.400501157 0.9666 hCV2783590 rs6478486hCV16175379 rs2239657 0.51 0.400501157 0.9341 hCV2783590 rs6478486hCV16180474 rs2273988 0.51 0.400501157 0.4011 hCV2783590 rs6478486hCV16234795 rs2416804 0.51 0.400501157 0.6014 hCV2783590 rs6478486hCV16234838 rs2416819 0.51 0.400501157 0.4734 hCV2783590 rs6478486hCV16234840 rs2416817 0.51 0.400501157 0.4989 hCV2783590 rs6478486hCV1632195 rs1998505 0.51 0.400501157 0.4989 hCV2783590 rs6478486hCV1632205 rs10818509 0.51 0.400501157 0.4237 hCV2783590 rs6478486hCV1761888 rs1953126 0.51 0.400501157 1 hCV2783590 rs6478486 hCV1761891rs1930778 0.51 0.400501157 1 hCV2783590 rs6478486 hCV1761894 rs16098100.51 0.400501157 1 hCV2783590 rs6478486 hCV2359565 rs1014530 0.510.400501157 0.6344 hCV2783590 rs6478486 hCV25472748 rs10760138 0.510.400501157 0.4328 hCV2783590 rs6478486 hCV25613469 rs10760157 0.510.400501157 0.4734 hCV2783590 rs6478486 hCV25746749 rs7023214 0.510.400501157 0.4237 hCV2783590 rs6478486 hCV25751916 rs10985070 0.510.400501157 0.6691 hCV2783590 rs6478486 hCV25771057 rs10760150 0.510.400501157 0.4989 hCV2783590 rs6478486 hCV25969661 rs10818503 0.510.400501157 0.4237 hCV2783590 rs6478486 hCV26144328 rs4836841 0.510.400501157 0.4011 hCV2783590 rs6478486 hCV2783582 rs10818482 0.510.400501157 0.6691 hCV2783590 rs6478486 hCV2783586 rs2270231 0.510.400501157 1 hCV2783590 rs6478486 hCV2783589 rs881375 0.51 0.4005011571 hCV2783590 rs6478486 hCV2783591 rs1468671 0.51 0.400501157 0.9666hCV2783590 rs6478486 hCV2783593 rs1548783 0.51 0.400501157 0.9661hCV2783590 rs6478486 hCV2783597 rs1860824 0.51 0.400501157 0.965hCV2783590 rs6478486 hCV2783599 rs7046108 0.51 0.400501157 0.9666hCV2783590 rs6478486 hCV2783604 rs10760126 0.51 0.400501157 0.6526hCV2783590 rs6478486 hCV2783607 rs9886724 0.51 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hCV2783608 rs4836834 hCV25751916 rs10985070 0.51 0.3300727840.9671 hCV2783608 rs4836834 hCV26144282 rs10818499 0.51 0.3300727840.3301 hCV2783608 rs4836834 hCV26144291 rs4570235 0.51 0.3300727840.3301 hCV2783608 rs4836834 hCV26144307 rs1016468 0.51 0.330072784 0.472hCV2783608 rs4836834 hCV26144332 rs4837813 0.51 0.330072784 0.4513hCV2783608 rs4836834 hCV2783582 rs10818482 0.51 0.330072784 0.9671hCV2783608 rs4836834 hCV2783586 rs2270231 0.51 0.330072784 0.6344hCV2783608 rs4836834 hCV2783589 rs881375 0.51 0.330072784 0.6344hCV2783608 rs4836834 hCV2783590 rs6478486 0.51 0.330072784 0.6344hCV2783608 rs4836834 hCV2783591 rs1468671 0.51 0.330072784 0.6687hCV2783608 rs4836834 hCV2783593 rs1548783 0.51 0.330072784 0.6645hCV2783608 rs4836834 hCV2783597 rs1860824 0.51 0.330072784 0.6581hCV2783608 rs4836834 hCV2783599 rs7046108 0.51 0.330072784 0.6687hCV2783608 rs4836834 hCV2783604 rs10760126 0.51 0.330072784 1 hCV2783608rs4836834 hCV2783607 rs9886724 0.51 0.330072784 1 hCV2783608 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hCV2783618rs2239658 hCV2783611 rs10435843 0.51 0.423423973 1 hCV2783618 rs2239658hCV2783620 rs7021880 0.51 0.423423973 0.9301 hCV2783618 rs2239658hCV2783621 rs2416805 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783622rs758959 0.51 0.423423973 1 hCV2783618 rs2239658 hCV2783625 rs101183570.51 0.423423973 0.6645 hCV2783618 rs2239658 hCV2783630 rs2269060 0.510.423423973 0.6687 hCV2783618 rs2239658 hCV2783633 rs7021049 0.510.423423973 0.6687 hCV2783618 rs2239658 hCV2783634 rs1014529 0.510.423423973 1 hCV2783618 rs2239658 hCV2783635 rs1930780 0.51 0.4234239731 hCV2783618 rs2239658 hCV2783638 rs3761846 0.51 0.423423973 0.6687hCV2783618 rs2239658 hCV2783640 rs3761847 0.51 0.423423973 0.6341hCV2783618 rs2239658 hCV2783641 rs2416806 0.51 0.423423973 1 hCV2783618rs2239658 hCV2783647 rs10739580 0.51 0.423423973 1 hCV2783618 rs2239658hCV2783650 rs10760129 0.51 0.423423973 0.6687 hCV2783618 rs2239658hCV2783653 rs10760130 0.51 0.423423973 0.6687 hCV2783618 rs2239658hCV2783655 rs10818488 0.51 0.423423973 0.6687 hCV2783618 rs2239658hCV2783656 rs4837804 0.51 0.423423973 0.8956 hCV2783618 rs2239658hCV2783659 rs7039505 0.51 0.423423973 1 hCV2783618 rs2239658 hCV27912350rs4837808 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV27912351rs4837809 0.51 0.423423973 0.4708 hCV2783618 rs2239658 hCV29005923rs6478494 0.51 0.423423973 0.4238 hCV2783618 rs2239658 hCV29005924rs7031128 0.51 0.423423973 0.4264 hCV2783618 rs2239658 hCV29005976rs7037195 0.51 0.423423973 0.6687 hCV2783618 rs2239658 hCV29005978rs7021206 0.51 0.423423973 1 hCV2783618 rs2239658 hCV29006006 rs70343900.51 0.423423973 0.9666 hCV2783618 rs2239658 hCV30059070 rs10156413 0.510.423423973 0.5258 hCV2783618 rs2239658 hCV3045792 rs6478499 0.510.423423973 0.4879 hCV2783618 rs2239658 hCV3045801 rs2057465 0.510.423423973 0.4332 hCV2783618 rs2239658 hCV30563729 rs9299273 0.510.423423973 0.4708 hCV2783618 rs2239658 hCV30830468 rs10818507 0.510.423423973 0.4539 hCV2783618 rs2239658 hCV30830473 rs7036649 0.510.423423973 0.4705 hCV2783618 rs2239658 hCV30830475 rs10733652 0.510.423423973 0.4269 hCV2783618 rs2239658 hCV30830484 rs10818508 0.510.423423973 0.4708 hCV2783618 rs2239658 hCV30830486 rs10760149 0.510.423423973 0.4708 hCV2783618 rs2239658 hCV30830503 rs4837811 0.510.423423973 0.4708 hCV2783618 rs2239658 hCV30830512 rs10818512 0.510.423423973 0.4465 hCV2783618 rs2239658 hCV30830521 rs10818513 0.510.423423973 0.4465 hCV2783618 rs2239658 hCV30830536 rs7047038 0.510.423423973 0.4465 hCV2783618 rs2239658 hCV30830638 rs10985073 0.510.423423973 0.6467 hCV2783618 rs2239658 hCV30830725 rs7864019 0.510.423423973 1 hCV2783618 rs2239658 hCV30830832 rs10733648 0.510.423423973 1 hCV2783618 rs2239658 hCV30830909 rs11794516 0.510.423423973 0.6467 hCV2783618 rs2239658 hCV7577250 rs942153 0.510.423423973 0.4465 hCV2783618 rs2239658 hCV7577271 rs1535655 0.510.423423973 0.4465 hCV2783618 rs2239658 hCV7577287 rs1323478 0.510.423423973 0.4708 hCV2783618 rs2239658 hCV7577296 rs1407910 0.510.423423973 0.4708 hCV2783618 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hCV16124825 rs2109895 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV16175379 rs2239657 0.510.304581904 0.8938 hCV2783620 rs7021880 hCV16180474 rs2273988 0.510.304581904 0.3656 hCV2783620 rs7021880 hCV16234795 rs2416804 0.510.304581904 0.5724 hCV2783620 rs7021880 hCV16234838 rs2416819 0.510.304581904 0.438 hCV2783620 rs7021880 hCV16234840 rs2416817 0.510.304581904 0.4634 hCV2783620 rs7021880 hCV1632195 rs1998505 0.510.304581904 0.4634 hCV2783620 rs7021880 hCV1632205 rs10818509 0.510.304581904 0.388 hCV2783620 rs7021880 hCV1761888 rs1953126 0.510.304581904 0.8974 hCV2783620 rs7021880 hCV1761891 rs1930778 0.510.304581904 0.919 hCV2783620 rs7021880 hCV1761894 rs1609810 0.510.304581904 0.8797 hCV2783620 rs7021880 hCV22272588 rs10760117 0.510.304581904 0.3276 hCV2783620 rs7021880 hCV2359565 rs1014530 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV25472748 rs10760138 0.510.304581904 0.3378 hCV2783620 rs7021880 hCV25613469 rs10760157 0.510.304581904 0.438 hCV2783620 rs7021880 hCV25746749 rs7023214 0.510.304581904 0.388 hCV2783620 rs7021880 hCV25751916 rs10985070 0.510.304581904 0.5878 hCV2783620 rs7021880 hCV25771057 rs10760150 0.510.304581904 0.4634 hCV2783620 rs7021880 hCV25969661 rs10818503 0.510.304581904 0.388 hCV2783620 rs7021880 hCV26144328 rs4836841 0.510.304581904 0.3656 hCV2783620 rs7021880 hCV2783582 rs10818482 0.510.304581904 0.5878 hCV2783620 rs7021880 hCV2783586 rs2270231 0.510.304581904 0.8974 hCV2783620 rs7021880 hCV2783589 rs881375 0.510.304581904 0.8974 hCV2783620 rs7021880 hCV2783590 rs6478486 0.510.304581904 0.8974 hCV2783620 rs7021880 hCV2783591 rs1468671 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783593 rs1548783 0.510.304581904 0.9293 hCV2783620 rs7021880 hCV2783597 rs1860824 0.510.304581904 0.9627 hCV2783620 rs7021880 hCV2783599 rs7046108 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783604 rs10760126 0.510.304581904 0.6261 hCV2783620 rs7021880 hCV2783607 rs9886724 0.510.304581904 0.6151 hCV2783620 rs7021880 hCV2783608 rs4836834 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783609 rs2241003 0.510.304581904 0.8611 hCV2783620 rs7021880 hCV2783611 rs10435843 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783618 rs2239658 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783621 rs2416805 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783622 rs758959 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783625 rs10118357 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783630 rs2269060 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783633 rs7021049 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783634 rs1014529 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783635 rs1930780 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783638 rs3761846 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783640 rs3761847 0.510.304581904 0.5724 hCV2783620 rs7021880 hCV2783641 rs2416806 0.510.304581904 0.9275 hCV2783620 rs7021880 hCV2783647 rs10739580 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV2783650 rs10760129 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783653 rs10760130 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783655 rs10818488 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV2783656 rs4837804 0.510.304581904 0.8278 hCV2783620 rs7021880 hCV2783659 rs7039505 0.510.304581904 0.9186 hCV2783620 rs7021880 hCV2783699 rs10760135 0.510.304581904 0.321 hCV2783620 rs7021880 hCV2783718 rs10818500 0.510.304581904 0.3411 hCV2783620 rs7021880 hCV27912350 rs4837808 0.510.304581904 0.4634 hCV2783620 rs7021880 hCV27912351 rs4837809 0.510.304581904 0.4634 hCV2783620 rs7021880 hCV29005922 rs7033790 0.510.304581904 0.3506 hCV2783620 rs7021880 hCV29005923 rs6478494 0.510.304581904 0.3617 hCV2783620 rs7021880 hCV29005924 rs7031128 0.510.304581904 0.3572 hCV2783620 rs7021880 hCV29005931 rs6478496 0.510.304581904 0.3506 hCV2783620 rs7021880 hCV29005938 rs7856420 0.510.304581904 0.388 hCV2783620 rs7021880 hCV29005976 rs7037195 0.510.304581904 0.6088 hCV2783620 rs7021880 hCV29005978 rs7021206 0.510.304581904 0.9271 hCV2783620 rs7021880 hCV29006006 rs7034390 0.510.304581904 0.8974 hCV2783620 rs7021880 hCV30059070 rs10156413 0.510.304581904 0.4923 hCV2783620 rs7021880 hCV30293181 rs10081760 0.510.304581904 0.3856 hCV2783620 rs7021880 hCV3045792 rs6478499 0.510.304581904 0.4822 hCV2783620 rs7021880 hCV3045801 rs2057465 0.510.304581904 0.438 hCV2783620 rs7021880 hCV3045802 rs2057466 0.510.304581904 0.3656 hCV2783620 rs7021880 hCV3045803 rs2146836 0.510.304581904 0.3656 hCV2783620 rs7021880 hCV30527383 rs9644911 0.510.304581904 0.3609 hCV2783620 rs7021880 hCV30563728 rs10156396 0.510.304581904 0.3378 hCV2783620 rs7021880 hCV30563729 rs9299273 0.510.304581904 0.4634 hCV2783620 rs7021880 hCV30830319 rs7037673 0.510.304581904 0.3171 hCV2783620 rs7021880 hCV30830339 rs10818495 0.510.304581904 0.3411 hCV2783620 rs7021880 hCV30830342 rs7040319 0.510.304581904 0.359 hCV2783620 rs7021880 hCV30830395 rs10985132 0.510.304581904 0.3506 hCV2783620 rs7021880 hCV30830396 rs10739584 0.510.304581904 0.3193 hCV2783620 rs7021880 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rs1468673 0.510.304581904 0.3511 hCV2783620 rs7021880 hCV7577332 rs1468672 0.510.304581904 0.3506 hCV2783620 rs7021880 hCV7577344 rs876445 0.510.304581904 0.9301 hCV2783620 rs7021880 hCV782872 rs758958 0.510.304581904 0.3506 hCV2783621 rs2416805 hCV11266229 rs10435844 0.510.411716825 1 hCV2783621 rs2416805 hCV11266268 rs10760121 0.510.411716825 0.9666 hCV2783621 rs2416805 hCV11720350 rs2057469 0.510.411716825 0.4465 hCV2783621 rs2416805 hCV11720413 rs1930782 0.510.411716825 0.6687 hCV2783621 rs2416805 hCV11720414 rs1930781 0.510.411716825 1 hCV2783621 rs2416805 hCV15849105 rs2900185 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV15849116 rs2900180 0.510.411716825 1 hCV2783621 rs2416805 hCV15870898 rs2072438 0.510.411716825 0.6467 hCV2783621 rs2416805 hCV16124825 rs2109895 0.510.411716825 1 hCV2783621 rs2416805 hCV16175379 rs2239657 0.510.411716825 0.9664 hCV2783621 rs2416805 hCV16234795 rs2416804 0.510.411716825 0.6341 hCV2783621 rs2416805 hCV16234838 rs2416819 0.510.411716825 0.4465 hCV2783621 rs2416805 hCV16234840 rs2416817 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV1632195 rs1998505 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV1761888 rs1953126 0.510.411716825 0.9666 hCV2783621 rs2416805 hCV1761891 rs1930778 0.510.411716825 0.9602 hCV2783621 rs2416805 hCV1761894 rs1609810 0.510.411716825 0.9609 hCV2783621 rs2416805 hCV2359565 rs1014530 0.510.411716825 0.6687 hCV2783621 rs2416805 hCV25613469 rs10760157 0.510.411716825 0.4465 hCV2783621 rs2416805 hCV25751916 rs10985070 0.510.411716825 0.6467 hCV2783621 rs2416805 hCV25771057 rs10760150 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV2783582 rs10818482 0.510.411716825 0.6467 hCV2783621 rs2416805 hCV2783586 rs2270231 0.510.411716825 0.9666 hCV2783621 rs2416805 hCV2783589 rs881375 0.510.411716825 0.9666 hCV2783621 rs2416805 hCV2783590 rs6478486 0.510.411716825 0.9666 hCV2783621 rs2416805 hCV2783591 rs1468671 0.510.411716825 1 hCV2783621 rs2416805 hCV2783593 rs1548783 0.51 0.4117168251 hCV2783621 rs2416805 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rs2416805 hCV2783640 rs3761847 0.51 0.411716825 0.6341hCV2783621 rs2416805 hCV2783641 rs2416806 0.51 0.411716825 1 hCV2783621rs2416805 hCV2783647 rs10739580 0.51 0.411716825 1 hCV2783621 rs2416805hCV2783650 rs10760129 0.51 0.411716825 0.6687 hCV2783621 rs2416805hCV2783653 rs10760130 0.51 0.411716825 0.6687 hCV2783621 rs2416805hCV2783655 rs10818488 0.51 0.411716825 0.6687 hCV2783621 rs2416805hCV2783656 rs4837804 0.51 0.411716825 0.8956 hCV2783621 rs2416805hCV2783659 rs7039505 0.51 0.411716825 1 hCV2783621 rs2416805 hCV27912350rs4837808 0.51 0.411716825 0.4708 hCV2783621 rs2416805 hCV27912351rs4837809 0.51 0.411716825 0.4708 hCV2783621 rs2416805 hCV29005923rs6478494 0.51 0.411716825 0.4238 hCV2783621 rs2416805 hCV29005924rs7031128 0.51 0.411716825 0.4264 hCV2783621 rs2416805 hCV29005976rs7037195 0.51 0.411716825 0.6687 hCV2783621 rs2416805 hCV29005978rs7021206 0.51 0.411716825 1 hCV2783621 rs2416805 hCV29006006 rs70343900.51 0.411716825 0.9666 hCV2783621 rs2416805 hCV30059070 rs10156413 0.510.411716825 0.5258 hCV2783621 rs2416805 hCV3045792 rs6478499 0.510.411716825 0.4879 hCV2783621 rs2416805 hCV3045801 rs2057465 0.510.411716825 0.4332 hCV2783621 rs2416805 hCV30563729 rs9299273 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV30830414 rs7871371 0.510.411716825 0.417 hCV2783621 rs2416805 hCV30830468 rs10818507 0.510.411716825 0.4539 hCV2783621 rs2416805 hCV30830473 rs7036649 0.510.411716825 0.4705 hCV2783621 rs2416805 hCV30830475 rs10733652 0.510.411716825 0.4269 hCV2783621 rs2416805 hCV30830484 rs10818508 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV30830486 rs10760149 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV30830503 rs4837811 0.510.411716825 0.4708 hCV2783621 rs2416805 hCV30830512 rs10818512 0.510.411716825 0.4465 hCV2783621 rs2416805 hCV30830521 rs10818513 0.510.411716825 0.4465 hCV2783621 rs2416805 hCV30830536 rs7047038 0.510.411716825 0.4465 hCV2783621 rs2416805 hCV30830638 rs10985073 0.510.411716825 0.6467 hCV2783621 rs2416805 hCV30830725 rs7864019 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hCV2783625 rs10118357 hCV1452652 rs1060817 0.510.313879134 0.3446 hCV2783625 rs10118357 hCV1452665 rs4837796 0.510.313879134 0.3662 hCV2783625 rs10118357 hCV15751717 rs2296077 0.510.313879134 0.4287 hCV2783625 rs10118357 hCV15751719 rs2146838 0.510.313879134 0.4886 hCV2783625 rs10118357 hCV15755658 rs2300934 0.510.313879134 0.3203 hCV2783625 rs10118357 hCV15757738 rs2302498 0.510.313879134 0.4424 hCV2783625 rs10118357 hCV15849116 rs2900180 0.510.313879134 0.6587 hCV2783625 rs10118357 hCV15870898 rs2072438 0.510.313879134 0.9665 hCV2783625 rs10118357 hCV16124825 rs2109895 0.510.313879134 0.6645 hCV2783625 rs10118357 hCV16175379 rs2239657 0.510.313879134 0.6419 hCV2783625 rs10118357 hCV16234785 rs2416811 0.510.313879134 0.3377 hCV2783625 rs10118357 hCV16234795 rs2416804 0.510.313879134 0.9666 hCV2783625 rs10118357 hCV1761881 rs3933326 0.510.313879134 0.3184 hCV2783625 rs10118357 hCV1761888 rs1953126 0.510.313879134 0.6295 hCV2783625 rs10118357 hCV1761891 rs1930778 0.510.313879134 0.5712 hCV2783625 rs10118357 hCV1761894 rs1609810 0.510.313879134 0.6003 hCV2783625 rs10118357 hCV22272588 rs10760117 0.510.313879134 0.3662 hCV2783625 rs10118357 hCV2359565 rs1014530 0.510.313879134 1 hCV2783625 rs10118357 hCV2359571 rs25681 0.51 0.3138791340.3377 hCV2783625 rs10118357 hCV25751916 rs10985070 0.51 0.3138791340.9665 hCV2783625 rs10118357 hCV26144282 rs10818499 0.51 0.3138791340.3377 hCV2783625 rs10118357 hCV26144291 rs4570235 0.51 0.3138791340.3377 hCV2783625 rs10118357 hCV26144307 rs1016468 0.51 0.3138791340.4886 hCV2783625 rs10118357 hCV26144332 rs4837813 0.51 0.3138791340.4683 hCV2783625 rs10118357 hCV2783582 rs10818482 0.51 0.3138791340.9665 hCV2783625 rs10118357 hCV2783586 rs2270231 0.51 0.3138791340.6295 hCV2783625 rs10118357 hCV2783589 rs881375 0.51 0.313879134 0.6295hCV2783625 rs10118357 hCV2783590 rs6478486 0.51 0.313879134 0.6295hCV2783625 rs10118357 hCV2783591 rs1468671 0.51 0.313879134 0.6645hCV2783625 rs10118357 hCV2783593 rs1548783 0.51 0.313879134 0.6601hCV2783625 rs10118357 hCV2783597 rs1860824 0.51 0.313879134 0.6539hCV2783625 rs10118357 hCV2783599 rs7046108 0.51 0.313879134 0.6645hCV2783625 rs10118357 hCV2783604 rs10760126 0.51 0.313879134 1hCV2783625 rs10118357 hCV2783607 rs9886724 0.51 0.313879134 1 hCV2783625rs10118357 hCV2783608 rs4836834 0.51 0.313879134 1 hCV2783625 rs10118357hCV2783609 rs2241003 0.51 0.313879134 0.7034 hCV2783625 rs10118357hCV2783611 rs10435843 0.51 0.313879134 0.6645 hCV2783625 rs10118357hCV2783618 rs2239658 0.51 0.313879134 0.6645 hCV2783625 rs10118357hCV2783620 rs7021880 0.51 0.313879134 0.6088 hCV2783625 rs10118357hCV2783621 rs2416805 0.51 0.313879134 0.6645 hCV2783625 rs10118357hCV2783622 rs758959 0.51 0.313879134 0.6645 hCV2783625 rs10118357hCV2783630 rs2269060 0.51 0.313879134 1 hCV2783625 rs10118357 hCV2783633rs7021049 0.51 0.313879134 1 hCV2783625 rs10118357 hCV2783634 rs10145290.51 0.313879134 0.6645 hCV2783625 rs10118357 hCV2783635 rs1930780 0.510.313879134 0.6645 hCV2783625 rs10118357 hCV2783638 rs3761846 0.510.313879134 1 hCV2783625 rs10118357 hCV2783640 rs3761847 0.510.313879134 0.9666 hCV2783625 rs10118357 hCV2783641 rs2416806 0.510.313879134 0.655 hCV2783625 rs10118357 hCV2783647 rs10739580 0.510.313879134 0.6645 hCV2783625 rs10118357 hCV2783650 rs10760129 0.510.313879134 1 hCV2783625 rs10118357 hCV2783653 rs10760130 0.510.313879134 1 hCV2783625 rs10118357 hCV2783655 rs10818488 0.510.313879134 1 hCV2783625 rs10118357 hCV2783656 rs4837804 0.510.313879134 0.775 hCV2783625 rs10118357 hCV2783659 rs7039505 0.510.313879134 0.6519 hCV2783625 rs10118357 hCV2783711 rs10733650 0.510.313879134 0.3812 hCV2783625 rs10118357 hCV2783718 rs10818500 0.510.313879134 0.6661 hCV2783625 rs10118357 hCV29005933 rs7042135 0.510.313879134 0.3203 hCV2783625 rs10118357 hCV29005936 rs6478498 0.510.313879134 0.3203 hCV2783625 rs10118357 hCV29005955 rs7036980 0.510.313879134 0.4221 hCV2783625 rs10118357 hCV29005976 rs7037195 0.510.313879134 1 hCV2783625 rs10118357 hCV29005978 rs7021206 0.510.313879134 0.6989 hCV2783625 rs10118357 hCV29006006 rs7034390 0.510.313879134 0.6295 hCV2783625 rs10118357 hCV29734592 rs10435889 0.510.313879134 0.3247 hCV2783625 rs10118357 hCV29879049 rs9792437 0.510.313879134 0.4631 hCV2783625 rs10118357 hCV3045812 rs7030849 0.510.313879134 0.4631 hCV2783625 rs10118357 hCV30829523 rs12343516 0.510.313879134 0.3446 hCV2783625 rs10118357 hCV30830319 rs7037673 0.510.313879134 0.5292 hCV2783625 rs10118357 hCV30830325 rs10818494 0.510.313879134 0.4255 hCV2783625 rs10118357 hCV30830340 rs10760134 0.510.313879134 0.4048 hCV2783625 rs10118357 hCV30830341 rs7040033 0.510.313879134 0.4048 hCV2783625 rs10118357 hCV30830415 rs7855998 0.510.313879134 0.3203 hCV2783625 rs10118357 hCV30830419 rs10985140 0.510.313879134 0.6251 hCV2783625 rs10118357 hCV30830427 rs10760142 0.510.313879134 0.3203 hCV2783625 rs10118357 hCV30830474 rs10739590 0.510.313879134 0.5432 hCV2783625 rs10118357 hCV30830638 rs10985073 0.510.313879134 0.9665 hCV2783625 rs10118357 hCV30830725 rs7864019 0.510.313879134 0.6645 hCV2783625 rs10118357 hCV30830832 rs10733648 0.510.313879134 0.6645 hCV2783625 rs10118357 hCV30830909 rs11794516 0.510.313879134 0.9665 hCV2783625 rs10118357 hCV7577254 rs942152 0.510.313879134 0.393 hCV2783625 rs10118357 hCV7577317 rs1323472 0.510.313879134 0.6544 hCV2783625 rs10118357 hCV7577331 rs1468673 0.510.313879134 0.6544 hCV2783625 rs10118357 hCV7577337 rs993247 0.510.313879134 0.3377 hCV2783625 rs10118357 hCV7577344 rs876445 0.510.313879134 0.6645 hCV2783625 rs10118357 hCV782875 rs746182 0.510.313879134 0.4683 hCV2783633 rs7021049 hCV11266229 rs10435844 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV11266268 rs10760121 0.510.313879134 0.6344 hCV2783633 rs7021049 hCV11720351 rs1885995 0.510.313879134 0.472 hCV2783633 rs7021049 hCV11720402 rs17611 0.510.313879134 0.3301 hCV2783633 rs7021049 hCV11720413 rs1930782 0.510.313879134 1 hCV2783633 rs7021049 hCV11720414 rs1930781 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV1452630 rs10818476 0.510.313879134 0.3495 hCV2783633 rs7021049 hCV1452651 rs3793638 0.510.313879134 0.3281 hCV2783633 rs7021049 hCV1452652 rs1060817 0.510.313879134 0.3281 hCV2783633 rs7021049 hCV1452665 rs4837796 0.510.313879134 0.3495 hCV2783633 rs7021049 hCV15751717 rs2296077 0.510.313879134 0.4129 hCV2783633 rs7021049 hCV15751719 rs2146838 0.510.313879134 0.472 hCV2783633 rs7021049 hCV15757738 rs2302498 0.510.313879134 0.4266 hCV2783633 rs7021049 hCV15849116 rs2900180 0.510.313879134 0.6587 hCV2783633 rs7021049 hCV15870898 rs2072438 0.510.313879134 0.9671 hCV2783633 rs7021049 hCV16124825 rs2109895 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV16175379 rs2239657 0.510.313879134 0.6463 hCV2783633 rs7021049 hCV16234785 rs2416811 0.510.313879134 0.3301 hCV2783633 rs7021049 hCV16234795 rs2416804 0.510.313879134 0.9672 hCV2783633 rs7021049 hCV1761881 rs3933326 0.510.313879134 0.3254 hCV2783633 rs7021049 hCV1761888 rs1953126 0.510.313879134 0.6344 hCV2783633 rs7021049 hCV1761891 rs1930778 0.510.313879134 0.5775 hCV2783633 rs7021049 hCV1761894 rs1609810 0.510.313879134 0.6068 hCV2783633 rs7021049 hCV22272588 rs10760117 0.510.313879134 0.3495 hCV2783633 rs7021049 hCV2359565 rs1014530 0.510.313879134 1 hCV2783633 rs7021049 hCV2359571 rs25681 0.51 0.3138791340.3301 hCV2783633 rs7021049 hCV25751916 rs10985070 0.51 0.3138791340.9671 hCV2783633 rs7021049 hCV26144282 rs10818499 0.51 0.3138791340.3301 hCV2783633 rs7021049 hCV26144291 rs4570235 0.51 0.3138791340.3301 hCV2783633 rs7021049 hCV26144307 rs1016468 0.51 0.313879134 0.472hCV2783633 rs7021049 hCV26144332 rs4837813 0.51 0.313879134 0.4513hCV2783633 rs7021049 hCV2783582 rs10818482 0.51 0.313879134 0.9671hCV2783633 rs7021049 hCV2783586 rs2270231 0.51 0.313879134 0.6344hCV2783633 rs7021049 hCV2783589 rs881375 0.51 0.313879134 0.6344hCV2783633 rs7021049 hCV2783590 rs6478486 0.51 0.313879134 0.6344hCV2783633 rs7021049 hCV2783591 rs1468671 0.51 0.313879134 0.6687hCV2783633 rs7021049 hCV2783593 rs1548783 0.51 0.313879134 0.6645hCV2783633 rs7021049 hCV2783597 rs1860824 0.51 0.313879134 0.6581hCV2783633 rs7021049 hCV2783599 rs7046108 0.51 0.313879134 0.6687hCV2783633 rs7021049 hCV2783604 rs10760126 0.51 0.313879134 1 hCV2783633rs7021049 hCV2783607 rs9886724 0.51 0.313879134 1 hCV2783633 rs7021049hCV2783608 rs4836834 0.51 0.313879134 1 hCV2783633 rs7021049 hCV2783609rs2241003 0.51 0.313879134 0.7074 hCV2783633 rs7021049 hCV2783611rs10435843 0.51 0.313879134 0.6687 hCV2783633 rs7021049 hCV2783618rs2239658 0.51 0.313879134 0.6687 hCV2783633 rs7021049 hCV2783620rs7021880 0.51 0.313879134 0.6088 hCV2783633 rs7021049 hCV2783621rs2416805 0.51 0.313879134 0.6687 hCV2783633 rs7021049 hCV2783622rs758959 0.51 0.313879134 0.6687 hCV2783633 rs7021049 hCV2783625rs10118357 0.51 0.313879134 1 hCV2783633 rs7021049 hCV2783630 rs22690600.51 0.313879134 1 hCV2783633 rs7021049 hCV2783634 rs1014529 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV2783635 rs1930780 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV2783638 rs3761846 0.510.313879134 1 hCV2783633 rs7021049 hCV2783640 rs3761847 0.51 0.3138791340.9672 hCV2783633 rs7021049 hCV2783641 rs2416806 0.51 0.313879134 0.6594hCV2783633 rs7021049 hCV2783647 rs10739580 0.51 0.313879134 0.6687hCV2783633 rs7021049 hCV2783650 rs10760129 0.51 0.313879134 1 hCV2783633rs7021049 hCV2783653 rs10760130 0.51 0.313879134 1 hCV2783633 rs7021049hCV2783655 rs10818488 0.51 0.313879134 1 hCV2783633 rs7021049 hCV2783656rs4837804 0.51 0.313879134 0.775 hCV2783633 rs7021049 hCV2783659rs7039505 0.51 0.313879134 0.6562 hCV2783633 rs7021049 hCV2783711rs10733650 0.51 0.313879134 0.3723 hCV2783633 rs7021049 hCV2783718rs10818500 0.51 0.313879134 0.6661 hCV2783633 rs7021049 hCV29005955rs7036980 0.51 0.313879134 0.4056 hCV2783633 rs7021049 hCV29005976rs7037195 0.51 0.313879134 1 hCV2783633 rs7021049 hCV29005978 rs70212060.51 0.313879134 0.7031 hCV2783633 rs7021049 hCV29006006 rs7034390 0.510.313879134 0.6344 hCV2783633 rs7021049 hCV29734592 rs10435889 0.510.313879134 0.3176 hCV2783633 rs7021049 hCV29879049 rs9792437 0.510.313879134 0.4468 hCV2783633 rs7021049 hCV3045812 rs7030849 0.510.313879134 0.4468 hCV2783633 rs7021049 hCV30829523 rs12343516 0.510.313879134 0.3281 hCV2783633 rs7021049 hCV30830319 rs7037673 0.510.313879134 0.517 hCV2783633 rs7021049 hCV30830325 rs10818494 0.510.313879134 0.4154 hCV2783633 rs7021049 hCV30830340 rs10760134 0.510.313879134 0.3949 hCV2783633 rs7021049 hCV30830341 rs7040033 0.510.313879134 0.3949 hCV2783633 rs7021049 hCV30830419 rs10985140 0.510.313879134 0.6317 hCV2783633 rs7021049 hCV30830474 rs10739590 0.510.313879134 0.5169 hCV2783633 rs7021049 hCV30830638 rs10985073 0.510.313879134 0.9671 hCV2783633 rs7021049 hCV30830725 rs7864019 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV30830832 rs10733648 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV30830909 rs11794516 0.510.313879134 0.9671 hCV2783633 rs7021049 hCV7577254 rs942152 0.510.313879134 0.3797 hCV2783633 rs7021049 hCV7577317 rs1323472 0.510.313879134 0.6604 hCV2783633 rs7021049 hCV7577331 rs1468673 0.510.313879134 0.6604 hCV2783633 rs7021049 hCV7577337 rs993247 0.510.313879134 0.3301 hCV2783633 rs7021049 hCV7577344 rs876445 0.510.313879134 0.6687 hCV2783633 rs7021049 hCV782875 rs746182 0.510.313879134 0.4513 hCV2783634 rs1014529 hCV11266229 rs10435844 0.510.411716825 1 hCV2783634 rs1014529 hCV11266268 rs10760121 0.510.411716825 0.9666 hCV2783634 rs1014529 hCV11720350 rs2057469 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV11720413 rs1930782 0.510.411716825 0.6687 hCV2783634 rs1014529 hCV11720414 rs1930781 0.510.411716825 1 hCV2783634 rs1014529 hCV15849105 rs2900185 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV15849116 rs2900180 0.510.411716825 1 hCV2783634 rs1014529 hCV15870898 rs2072438 0.510.411716825 0.6467 hCV2783634 rs1014529 hCV16124825 rs2109895 0.510.411716825 1 hCV2783634 rs1014529 hCV16175379 rs2239657 0.510.411716825 0.9664 hCV2783634 rs1014529 hCV16234795 rs2416804 0.510.411716825 0.6341 hCV2783634 rs1014529 hCV16234838 rs2416819 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV16234840 rs2416817 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV1632195 rs1998505 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV1761888 rs1953126 0.510.411716825 0.9666 hCV2783634 rs1014529 hCV1761891 rs1930778 0.510.411716825 0.9602 hCV2783634 rs1014529 hCV1761894 rs1609810 0.510.411716825 0.9609 hCV2783634 rs1014529 hCV2359565 rs1014530 0.510.411716825 0.6687 hCV2783634 rs1014529 hCV25613469 rs10760157 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV25751916 rs10985070 0.510.411716825 0.6467 hCV2783634 rs1014529 hCV25771057 rs10760150 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV2783582 rs10818482 0.510.411716825 0.6467 hCV2783634 rs1014529 hCV2783586 rs2270231 0.510.411716825 0.9666 hCV2783634 rs1014529 hCV2783589 rs881375 0.510.411716825 0.9666 hCV2783634 rs1014529 hCV2783590 rs6478486 0.510.411716825 0.9666 hCV2783634 rs1014529 hCV2783591 rs1468671 0.510.411716825 1 hCV2783634 rs1014529 hCV2783593 rs1548783 0.51 0.4117168251 hCV2783634 rs1014529 hCV2783597 rs1860824 0.51 0.411716825 1hCV2783634 rs1014529 hCV2783599 rs7046108 0.51 0.411716825 1 hCV2783634rs1014529 hCV2783604 rs10760126 0.51 0.411716825 0.6875 hCV2783634rs1014529 hCV2783607 rs9886724 0.51 0.411716825 0.6785 hCV2783634rs1014529 hCV2783608 rs4836834 0.51 0.411716825 0.6687 hCV2783634rs1014529 hCV2783609 rs2241003 0.51 0.411716825 0.9321 hCV2783634rs1014529 hCV2783611 rs10435843 0.51 0.411716825 1 hCV2783634 rs1014529hCV2783618 rs2239658 0.51 0.411716825 1 hCV2783634 rs1014529 hCV2783620rs7021880 0.51 0.411716825 0.9301 hCV2783634 rs1014529 hCV2783621rs2416805 0.51 0.411716825 1 hCV2783634 rs1014529 hCV2783622 rs7589590.51 0.411716825 1 hCV2783634 rs1014529 hCV2783625 rs10118357 0.510.411716825 0.6645 hCV2783634 rs1014529 hCV2783630 rs2269060 0.510.411716825 0.6687 hCV2783634 rs1014529 hCV2783633 rs7021049 0.510.411716825 0.6687 hCV2783634 rs1014529 hCV2783635 rs1930780 0.510.411716825 1 hCV2783634 rs1014529 hCV2783638 rs3761846 0.51 0.4117168250.6687 hCV2783634 rs1014529 hCV2783640 rs3761847 0.51 0.411716825 0.6341hCV2783634 rs1014529 hCV2783641 rs2416806 0.51 0.411716825 1 hCV2783634rs1014529 hCV2783647 rs10739580 0.51 0.411716825 1 hCV2783634 rs1014529hCV2783650 rs10760129 0.51 0.411716825 0.6687 hCV2783634 rs1014529hCV2783653 rs10760130 0.51 0.411716825 0.6687 hCV2783634 rs1014529hCV2783655 rs10818488 0.51 0.411716825 0.6687 hCV2783634 rs1014529hCV2783656 rs4837804 0.51 0.411716825 0.8956 hCV2783634 rs1014529hCV2783659 rs7039505 0.51 0.411716825 1 hCV2783634 rs1014529 hCV27912350rs4837808 0.51 0.411716825 0.4708 hCV2783634 rs1014529 hCV27912351rs4837809 0.51 0.411716825 0.4708 hCV2783634 rs1014529 hCV29005923rs6478494 0.51 0.411716825 0.4238 hCV2783634 rs1014529 hCV29005924rs7031128 0.51 0.411716825 0.4264 hCV2783634 rs1014529 hCV29005976rs7037195 0.51 0.411716825 0.6687 hCV2783634 rs1014529 hCV29005978rs7021206 0.51 0.411716825 1 hCV2783634 rs1014529 hCV29006006 rs70343900.51 0.411716825 0.9666 hCV2783634 rs1014529 hCV30059070 rs10156413 0.510.411716825 0.5258 hCV2783634 rs1014529 hCV3045792 rs6478499 0.510.411716825 0.4879 hCV2783634 rs1014529 hCV3045801 rs2057465 0.510.411716825 0.4332 hCV2783634 rs1014529 hCV30563729 rs9299273 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV30830414 rs7871371 0.510.411716825 0.417 hCV2783634 rs1014529 hCV30830468 rs10818507 0.510.411716825 0.4539 hCV2783634 rs1014529 hCV30830473 rs7036649 0.510.411716825 0.4705 hCV2783634 rs1014529 hCV30830475 rs10733652 0.510.411716825 0.4269 hCV2783634 rs1014529 hCV30830484 rs10818508 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV30830486 rs10760149 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV30830503 rs4837811 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV30830512 rs10818512 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV30830521 rs10818513 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV30830536 rs7047038 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV30830638 rs10985073 0.510.411716825 0.6467 hCV2783634 rs1014529 hCV30830725 rs7864019 0.510.411716825 1 hCV2783634 rs1014529 hCV30830832 rs10733648 0.510.411716825 1 hCV2783634 rs1014529 hCV30830909 rs11794516 0.510.411716825 0.6467 hCV2783634 rs1014529 hCV7577250 rs942153 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV7577271 rs1535655 0.510.411716825 0.4465 hCV2783634 rs1014529 hCV7577287 rs1323478 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV7577296 rs1407910 0.510.411716825 0.4708 hCV2783634 rs1014529 hCV7577344 rs876445 0.510.411716825 1 hCV2783638 rs3761846 hCV11266229 rs10435844 0.510.329406037 0.6687 hCV2783638 rs3761846 hCV11266268 rs10760121 0.510.329406037 0.6344 hCV2783638 rs3761846 hCV11720351 rs1885995 0.510.329406037 0.472 hCV2783638 rs3761846 hCV11720402 rs17611 0.510.329406037 0.3301 hCV2783638 rs3761846 hCV11720413 rs1930782 0.510.329406037 1 hCV2783638 rs3761846 hCV11720414 rs1930781 0.510.329406037 0.6687 hCV2783638 rs3761846 hCV1452630 rs10818476 0.510.329406037 0.3495 hCV2783638 rs3761846 hCV1452665 rs4837796 0.510.329406037 0.3495 hCV2783638 rs3761846 hCV15751717 rs2296077 0.510.329406037 0.4129 hCV2783638 rs3761846 hCV15751719 rs2146838 0.510.329406037 0.472 hCV2783638 rs3761846 hCV15757738 rs2302498 0.510.329406037 0.4266 hCV2783638 rs3761846 hCV15849116 rs2900180 0.510.329406037 0.6587 hCV2783638 rs3761846 hCV15870898 rs2072438 0.510.329406037 0.9671 hCV2783638 rs3761846 hCV16124825 rs2109895 0.510.329406037 0.6687 hCV2783638 rs3761846 hCV16175379 rs2239657 0.510.329406037 0.6463 hCV2783638 rs3761846 hCV16234785 rs2416811 0.510.329406037 0.3301 hCV2783638 rs3761846 hCV16234795 rs2416804 0.510.329406037 0.9672 hCV2783638 rs3761846 hCV1761888 rs1953126 0.510.329406037 0.6344 hCV2783638 rs3761846 hCV1761891 rs1930778 0.510.329406037 0.5775 hCV2783638 rs3761846 hCV1761894 rs1609810 0.510.329406037 0.6068 hCV2783638 rs3761846 hCV22272588 rs10760117 0.510.329406037 0.3495 hCV2783638 rs3761846 hCV2359565 rs1014530 0.510.329406037 1 hCV2783638 rs3761846 hCV2359571 rs25681 0.51 0.3294060370.3301 hCV2783638 rs3761846 hCV25751916 rs10985070 0.51 0.3294060370.9671 hCV2783638 rs3761846 hCV26144282 rs10818499 0.51 0.3294060370.3301 hCV2783638 rs3761846 hCV26144291 rs4570235 0.51 0.3294060370.3301 hCV2783638 rs3761846 hCV26144307 rs1016468 0.51 0.329406037 0.472hCV2783638 rs3761846 hCV26144332 rs4837813 0.51 0.329406037 0.4513hCV2783638 rs3761846 hCV2783582 rs10818482 0.51 0.329406037 0.9671hCV2783638 rs3761846 hCV2783586 rs2270231 0.51 0.329406037 0.6344hCV2783638 rs3761846 hCV2783589 rs881375 0.51 0.329406037 0.6344hCV2783638 rs3761846 hCV2783590 rs6478486 0.51 0.329406037 0.6344hCV2783638 rs3761846 hCV2783591 rs1468671 0.51 0.329406037 0.6687hCV2783638 rs3761846 hCV2783593 rs1548783 0.51 0.329406037 0.6645hCV2783638 rs3761846 hCV2783597 rs1860824 0.51 0.329406037 0.6581hCV2783638 rs3761846 hCV2783599 rs7046108 0.51 0.329406037 0.6687hCV2783638 rs3761846 hCV2783604 rs10760126 0.51 0.329406037 1 hCV2783638rs3761846 hCV2783607 rs9886724 0.51 0.329406037 1 hCV2783638 rs3761846hCV2783608 rs4836834 0.51 0.329406037 1 hCV2783638 rs3761846 hCV2783609rs2241003 0.51 0.329406037 0.7074 hCV2783638 rs3761846 hCV2783611rs10435843 0.51 0.329406037 0.6687 hCV2783638 rs3761846 hCV2783618rs2239658 0.51 0.329406037 0.6687 hCV2783638 rs3761846 hCV2783620rs7021880 0.51 0.329406037 0.6088 hCV2783638 rs3761846 hCV2783621rs2416805 0.51 0.329406037 0.6687 hCV2783638 rs3761846 hCV2783622rs758959 0.51 0.329406037 0.6687 hCV2783638 rs3761846 hCV2783625rs10118357 0.51 0.329406037 1 hCV2783638 rs3761846 hCV2783630 rs22690600.51 0.329406037 1 hCV2783638 rs3761846 hCV2783633 rs7021049 0.510.329406037 1 hCV2783638 rs3761846 hCV2783634 rs1014529 0.51 0.3294060370.6687 hCV2783638 rs3761846 hCV2783635 rs1930780 0.51 0.329406037 0.6687hCV2783638 rs3761846 hCV2783640 rs3761847 0.51 0.329406037 0.9672hCV2783638 rs3761846 hCV2783641 rs2416806 0.51 0.329406037 0.6594hCV2783638 rs3761846 hCV2783647 rs10739580 0.51 0.329406037 0.6687hCV2783638 rs3761846 hCV2783650 rs10760129 0.51 0.329406037 1 hCV2783638rs3761846 hCV2783653 rs10760130 0.51 0.329406037 1 hCV2783638 rs3761846hCV2783655 rs10818488 0.51 0.329406037 1 hCV2783638 rs3761846 hCV2783656rs4837804 0.51 0.329406037 0.775 hCV2783638 rs3761846 hCV2783659rs7039505 0.51 0.329406037 0.6562 hCV2783638 rs3761846 hCV2783711rs10733650 0.51 0.329406037 0.3723 hCV2783638 rs3761846 hCV2783718rs10818500 0.51 0.329406037 0.6661 hCV2783638 rs3761846 hCV29005955rs7036980 0.51 0.329406037 0.4056 hCV2783638 rs3761846 hCV29005976rs7037195 0.51 0.329406037 1 hCV2783638 rs3761846 hCV29005978 rs70212060.51 0.329406037 0.7031 hCV2783638 rs3761846 hCV29006006 rs7034390 0.510.329406037 0.6344 hCV2783638 rs3761846 hCV29879049 rs9792437 0.510.329406037 0.4468 hCV2783638 rs3761846 hCV3045812 rs7030849 0.510.329406037 0.4468 hCV2783638 rs3761846 hCV30830319 rs7037673 0.510.329406037 0.517 hCV2783638 rs3761846 hCV30830325 rs10818494 0.510.329406037 0.4154 hCV2783638 rs3761846 hCV30830340 rs10760134 0.510.329406037 0.3949 hCV2783638 rs3761846 hCV30830341 rs7040033 0.510.329406037 0.3949 hCV2783638 rs3761846 hCV30830419 rs10985140 0.510.329406037 0.6317 hCV2783638 rs3761846 hCV30830474 rs10739590 0.510.329406037 0.5169 hCV2783638 rs3761846 hCV30830638 rs10985073 0.510.329406037 0.9671 hCV2783638 rs3761846 hCV30830725 rs7864019 0.510.329406037 0.6687 hCV2783638 rs3761846 hCV30830832 rs10733648 0.510.329406037 0.6687 hCV2783638 rs3761846 hCV30830909 rs11794516 0.510.329406037 0.9671 hCV2783638 rs3761846 hCV7577254 rs942152 0.510.329406037 0.3797 hCV2783638 rs3761846 hCV7577317 rs1323472 0.510.329406037 0.6604 hCV2783638 rs3761846 hCV7577331 rs1468673 0.510.329406037 0.6604 hCV2783638 rs3761846 hCV7577337 rs993247 0.510.329406037 0.3301 hCV2783638 rs3761846 hCV7577344 rs876445 0.510.329406037 0.6687 hCV2783638 rs3761846 hCV782875 rs746182 0.510.329406037 0.4513 hCV2783641 rs2416806 hCV11266229 rs10435844 0.510.450433113 1 hCV2783641 rs2416806 hCV11266268 rs10760121 0.510.450433113 1 hCV2783641 rs2416806 hCV11720350 rs2057469 0.510.450433113 0.4561 hCV2783641 rs2416806 hCV11720413 rs1930782 0.510.450433113 0.6594 hCV2783641 rs2416806 hCV11720414 rs1930781 0.510.450433113 1 hCV2783641 rs2416806 hCV15849105 rs2900185 0.510.450433113 0.4819 hCV2783641 rs2416806 hCV15849116 rs2900180 0.510.450433113 1 hCV2783641 rs2416806 hCV15870898 rs2072438 0.510.450433113 0.6594 hCV2783641 rs2416806 hCV16124825 rs2109895 0.510.450433113 1 hCV2783641 rs2416806 hCV16175379 rs2239657 0.510.450433113 0.9652 hCV2783641 rs2416806 hCV16234795 rs2416804 0.510.450433113 0.6235 hCV2783641 rs2416806 hCV16234838 rs2416819 0.510.450433113 0.4561 hCV2783641 rs2416806 hCV16234840 rs2416817 0.510.450433113 0.4819 hCV2783641 rs2416806 hCV1632195 rs1998505 0.510.450433113 0.4819 hCV2783641 rs2416806 hCV1761888 rs1953126 0.510.450433113 1 hCV2783641 rs2416806 hCV1761891 rs1930778 0.51 0.4504331131 hCV2783641 rs2416806 hCV1761894 rs1609810 0.51 0.450433113 1hCV2783641 rs2416806 hCV2359565 rs1014530 0.51 0.450433113 0.6594hCV2783641 rs2416806 hCV25613469 rs10760157 0.51 0.450433113 0.4561hCV2783641 rs2416806 hCV25751916 rs10985070 0.51 0.450433113 0.6594hCV2783641 rs2416806 hCV25771057 rs10760150 0.51 0.450433113 0.4819hCV2783641 rs2416806 hCV2783582 rs10818482 0.51 0.450433113 0.6594hCV2783641 rs2416806 hCV2783586 rs2270231 0.51 0.450433113 1 hCV2783641rs2416806 hCV2783589 rs881375 0.51 0.450433113 1 hCV2783641 rs2416806hCV2783590 rs6478486 0.51 0.450433113 1 hCV2783641 rs2416806 hCV2783591rs1468671 0.51 0.450433113 1 hCV2783641 rs2416806 hCV2783593 rs15487830.51 0.450433113 1 hCV2783641 rs2416806 hCV2783597 rs1860824 0.510.450433113 1 hCV2783641 rs2416806 hCV2783599 rs7046108 0.51 0.4504331131 hCV2783641 rs2416806 hCV2783604 rs10760126 0.51 0.450433113 0.6785hCV2783641 rs2416806 hCV2783607 rs9886724 0.51 0.450433113 0.6785hCV2783641 rs2416806 hCV2783608 rs4836834 0.51 0.450433113 0.6594hCV2783641 rs2416806 hCV2783609 rs2241003 0.51 0.450433113 0.9321hCV2783641 rs2416806 hCV2783611 rs10435843 0.51 0.450433113 1 hCV2783641rs2416806 hCV2783618 rs2239658 0.51 0.450433113 1 hCV2783641 rs2416806hCV2783620 rs7021880 0.51 0.450433113 0.9275 hCV2783641 rs2416806hCV2783621 rs2416805 0.51 0.450433113 1 hCV2783641 rs2416806 hCV2783622rs758959 0.51 0.450433113 1 hCV2783641 rs2416806 hCV2783625 rs101183570.51 0.450433113 0.655 hCV2783641 rs2416806 hCV2783630 rs2269060 0.510.450433113 0.6594 hCV2783641 rs2416806 hCV2783633 rs7021049 0.510.450433113 0.6594 hCV2783641 rs2416806 hCV2783634 rs1014529 0.510.450433113 1 hCV2783641 rs2416806 hCV2783635 rs1930780 0.51 0.4504331131 hCV2783641 rs2416806 hCV2783638 rs3761846 0.51 0.450433113 0.6594hCV2783641 rs2416806 hCV2783640 rs3761847 0.51 0.450433113 0.6235hCV2783641 rs2416806 hCV2783647 rs10739580 0.51 0.450433113 1 hCV2783641rs2416806 hCV2783650 rs10760129 0.51 0.450433113 0.6594 hCV2783641rs2416806 hCV2783653 rs10760130 0.51 0.450433113 0.6594 hCV2783641rs2416806 hCV2783655 rs10818488 0.51 0.450433113 0.6594 hCV2783641rs2416806 hCV2783656 rs4837804 0.51 0.450433113 0.8918 hCV2783641rs2416806 hCV2783659 rs7039505 0.51 0.450433113 1 hCV2783641 rs2416806hCV27912350 rs4837808 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV27912351 rs4837809 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV29005976 rs7037195 0.51 0.450433113 0.6594 hCV2783641 rs2416806hCV29005978 rs7021206 0.51 0.450433113 1 hCV2783641 rs2416806hCV29006006 rs7034390 0.51 0.450433113 1 hCV2783641 rs2416806hCV30059070 rs10156413 0.51 0.450433113 0.5429 hCV2783641 rs2416806hCV3045792 rs6478499 0.51 0.450433113 0.4996 hCV2783641 rs2416806hCV30563729 rs9299273 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV30830468 rs10818507 0.51 0.450433113 0.4643 hCV2783641 rs2416806hCV30830473 rs7036649 0.51 0.450433113 0.4829 hCV2783641 rs2416806hCV30830484 rs10818508 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV30830486 rs10760149 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV30830503 rs4837811 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV30830512 rs10818512 0.51 0.450433113 0.4561 hCV2783641 rs2416806hCV30830521 rs10818513 0.51 0.450433113 0.4561 hCV2783641 rs2416806hCV30830536 rs7047038 0.51 0.450433113 0.4561 hCV2783641 rs2416806hCV30830638 rs10985073 0.51 0.450433113 0.6594 hCV2783641 rs2416806hCV30830725 rs7864019 0.51 0.450433113 1 hCV2783641 rs2416806hCV30830832 rs10733648 0.51 0.450433113 1 hCV2783641 rs2416806hCV30830909 rs11794516 0.51 0.450433113 0.6594 hCV2783641 rs2416806hCV7577250 rs942153 0.51 0.450433113 0.4561 hCV2783641 rs2416806hCV7577271 rs1535655 0.51 0.450433113 0.4561 hCV2783641 rs2416806hCV7577287 rs1323478 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV7577296 rs1407910 0.51 0.450433113 0.4819 hCV2783641 rs2416806hCV7577344 rs876445 0.51 0.450433113 1 hCV2783653 rs10760130 hCV11266229rs10435844 0.51 0.410057696 0.6687 hCV2783653 rs10760130 hCV11266268rs10760121 0.51 0.410057696 0.6344 hCV2783653 rs10760130 hCV11720351rs1885995 0.51 0.410057696 0.472 hCV2783653 rs10760130 hCV11720413rs1930782 0.51 0.410057696 1 hCV2783653 rs10760130 hCV11720414 rs19307810.51 0.410057696 0.6687 hCV2783653 rs10760130 hCV15751717 rs2296077 0.510.410057696 0.4129 hCV2783653 rs10760130 hCV15751719 rs2146838 0.510.410057696 0.472 hCV2783653 rs10760130 hCV15757738 rs2302498 0.510.410057696 0.4266 hCV2783653 rs10760130 hCV15849116 rs2900180 0.510.410057696 0.6587 hCV2783653 rs10760130 hCV15870898 rs2072438 0.510.410057696 0.9671 hCV2783653 rs10760130 hCV16124825 rs2109895 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV16175379 rs2239657 0.510.410057696 0.6463 hCV2783653 rs10760130 hCV16234795 rs2416804 0.510.410057696 0.9672 hCV2783653 rs10760130 hCV1761888 rs1953126 0.510.410057696 0.6344 hCV2783653 rs10760130 hCV1761891 rs1930778 0.510.410057696 0.5775 hCV2783653 rs10760130 hCV1761894 rs1609810 0.510.410057696 0.6068 hCV2783653 rs10760130 hCV2359565 rs1014530 0.510.410057696 1 hCV2783653 rs10760130 hCV25751916 rs10985070 0.510.410057696 0.9671 hCV2783653 rs10760130 hCV26144307 rs1016468 0.510.410057696 0.472 hCV2783653 rs10760130 hCV26144332 rs4837813 0.510.410057696 0.4513 hCV2783653 rs10760130 hCV2783582 rs10818482 0.510.410057696 0.9671 hCV2783653 rs10760130 hCV2783586 rs2270231 0.510.410057696 0.6344 hCV2783653 rs10760130 hCV2783589 rs881375 0.510.410057696 0.6344 hCV2783653 rs10760130 hCV2783590 rs6478486 0.510.410057696 0.6344 hCV2783653 rs10760130 hCV2783591 rs1468671 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783593 rs1548783 0.510.410057696 0.6645 hCV2783653 rs10760130 hCV2783597 rs1860824 0.510.410057696 0.6581 hCV2783653 rs10760130 hCV2783599 rs7046108 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783604 rs10760126 0.510.410057696 1 hCV2783653 rs10760130 hCV2783607 rs9886724 0.510.410057696 1 hCV2783653 rs10760130 hCV2783608 rs4836834 0.510.410057696 1 hCV2783653 rs10760130 hCV2783609 rs2241003 0.510.410057696 0.7074 hCV2783653 rs10760130 hCV2783611 rs10435843 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783618 rs2239658 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783620 rs7021880 0.510.410057696 0.6088 hCV2783653 rs10760130 hCV2783621 rs2416805 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783622 rs758959 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783625 rs10118357 0.510.410057696 1 hCV2783653 rs10760130 hCV2783630 rs2269060 0.510.410057696 1 hCV2783653 rs10760130 hCV2783633 rs7021049 0.510.410057696 1 hCV2783653 rs10760130 hCV2783634 rs1014529 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783635 rs1930780 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783638 rs3761846 0.510.410057696 1 hCV2783653 rs10760130 hCV2783640 rs3761847 0.510.410057696 0.9672 hCV2783653 rs10760130 hCV2783641 rs2416806 0.510.410057696 0.6594 hCV2783653 rs10760130 hCV2783647 rs10739580 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV2783650 rs10760129 0.510.410057696 1 hCV2783653 rs10760130 hCV2783655 rs10818488 0.510.410057696 1 hCV2783653 rs10760130 hCV2783656 rs4837804 0.510.410057696 0.775 hCV2783653 rs10760130 hCV2783659 rs7039505 0.510.410057696 0.6562 hCV2783653 rs10760130 hCV2783718 rs10818500 0.510.410057696 0.6661 hCV2783653 rs10760130 hCV29005976 rs7037195 0.510.410057696 1 hCV2783653 rs10760130 hCV29005978 rs7021206 0.510.410057696 0.7031 hCV2783653 rs10760130 hCV29006006 rs7034390 0.510.410057696 0.6344 hCV2783653 rs10760130 hCV29879049 rs9792437 0.510.410057696 0.4468 hCV2783653 rs10760130 hCV3045812 rs7030849 0.510.410057696 0.4468 hCV2783653 rs10760130 hCV30830319 rs7037673 0.510.410057696 0.517 hCV2783653 rs10760130 hCV30830325 rs10818494 0.510.410057696 0.4154 hCV2783653 rs10760130 hCV30830419 rs10985140 0.510.410057696 0.6317 hCV2783653 rs10760130 hCV30830474 rs10739590 0.510.410057696 0.5169 hCV2783653 rs10760130 hCV30830638 rs10985073 0.510.410057696 0.9671 hCV2783653 rs10760130 hCV30830725 rs7864019 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV30830832 rs10733648 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV30830909 rs11794516 0.510.410057696 0.9671 hCV2783653 rs10760130 hCV7577317 rs1323472 0.510.410057696 0.6604 hCV2783653 rs10760130 hCV7577331 rs1468673 0.510.410057696 0.6604 hCV2783653 rs10760130 hCV7577344 rs876445 0.510.410057696 0.6687 hCV2783653 rs10760130 hCV782875 rs746182 0.510.410057696 0.4513 hCV2783655 rs10818488 hCV11266229 rs10435844 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV11266268 rs10760121 0.510.366210234 0.6344 hCV2783655 rs10818488 hCV11720351 rs1885995 0.510.366210234 0.472 hCV2783655 rs10818488 hCV11720413 rs1930782 0.510.366210234 1 hCV2783655 rs10818488 hCV11720414 rs1930781 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV15751717 rs2296077 0.510.366210234 0.4129 hCV2783655 rs10818488 hCV15751719 rs2146838 0.510.366210234 0.472 hCV2783655 rs10818488 hCV15757738 rs2302498 0.510.366210234 0.4266 hCV2783655 rs10818488 hCV15849116 rs2900180 0.510.366210234 0.6587 hCV2783655 rs10818488 hCV15870898 rs2072438 0.510.366210234 0.9671 hCV2783655 rs10818488 hCV16124825 rs2109895 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV16175379 rs2239657 0.510.366210234 0.6463 hCV2783655 rs10818488 hCV16234795 rs2416804 0.510.366210234 0.9672 hCV2783655 rs10818488 hCV1761888 rs1953126 0.510.366210234 0.6344 hCV2783655 rs10818488 hCV1761891 rs1930778 0.510.366210234 0.5775 hCV2783655 rs10818488 hCV1761894 rs1609810 0.510.366210234 0.6068 hCV2783655 rs10818488 hCV2359565 rs1014530 0.510.366210234 1 hCV2783655 rs10818488 hCV25751916 rs10985070 0.510.366210234 0.9671 hCV2783655 rs10818488 hCV26144307 rs1016468 0.510.366210234 0.472 hCV2783655 rs10818488 hCV26144332 rs4837813 0.510.366210234 0.4513 hCV2783655 rs10818488 hCV2783582 rs10818482 0.510.366210234 0.9671 hCV2783655 rs10818488 hCV2783586 rs2270231 0.510.366210234 0.6344 hCV2783655 rs10818488 hCV2783589 rs881375 0.510.366210234 0.6344 hCV2783655 rs10818488 hCV2783590 rs6478486 0.510.366210234 0.6344 hCV2783655 rs10818488 hCV2783591 rs1468671 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783593 rs1548783 0.510.366210234 0.6645 hCV2783655 rs10818488 hCV2783597 rs1860824 0.510.366210234 0.6581 hCV2783655 rs10818488 hCV2783599 rs7046108 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783604 rs10760126 0.510.366210234 1 hCV2783655 rs10818488 hCV2783607 rs9886724 0.510.366210234 1 hCV2783655 rs10818488 hCV2783608 rs4836834 0.510.366210234 1 hCV2783655 rs10818488 hCV2783609 rs2241003 0.510.366210234 0.7074 hCV2783655 rs10818488 hCV2783611 rs10435843 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783618 rs2239658 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783620 rs7021880 0.510.366210234 0.6088 hCV2783655 rs10818488 hCV2783621 rs2416805 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783622 rs758959 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783625 rs10118357 0.510.366210234 1 hCV2783655 rs10818488 hCV2783630 rs2269060 0.510.366210234 1 hCV2783655 rs10818488 hCV2783633 rs7021049 0.510.366210234 1 hCV2783655 rs10818488 hCV2783634 rs1014529 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783635 rs1930780 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783638 rs3761846 0.510.366210234 1 hCV2783655 rs10818488 hCV2783640 rs3761847 0.510.366210234 0.9672 hCV2783655 rs10818488 hCV2783641 rs2416806 0.510.366210234 0.6594 hCV2783655 rs10818488 hCV2783647 rs10739580 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV2783650 rs10760129 0.510.366210234 1 hCV2783655 rs10818488 hCV2783653 rs10760130 0.510.366210234 1 hCV2783655 rs10818488 hCV2783656 rs4837804 0.510.366210234 0.775 hCV2783655 rs10818488 hCV2783659 rs7039505 0.510.366210234 0.6562 hCV2783655 rs10818488 hCV2783711 rs10733650 0.510.366210234 0.3723 hCV2783655 rs10818488 hCV2783718 rs10818500 0.510.366210234 0.6661 hCV2783655 rs10818488 hCV29005955 rs7036980 0.510.366210234 0.4056 hCV2783655 rs10818488 hCV29005976 rs7037195 0.510.366210234 1 hCV2783655 rs10818488 hCV29005978 rs7021206 0.510.366210234 0.7031 hCV2783655 rs10818488 hCV29006006 rs7034390 0.510.366210234 0.6344 hCV2783655 rs10818488 hCV29879049 rs9792437 0.510.366210234 0.4468 hCV2783655 rs10818488 hCV3045812 rs7030849 0.510.366210234 0.4468 hCV2783655 rs10818488 hCV30830319 rs7037673 0.510.366210234 0.517 hCV2783655 rs10818488 hCV30830325 rs10818494 0.510.366210234 0.4154 hCV2783655 rs10818488 hCV30830340 rs10760134 0.510.366210234 0.3949 hCV2783655 rs10818488 hCV30830341 rs7040033 0.510.366210234 0.3949 hCV2783655 rs10818488 hCV30830419 rs10985140 0.510.366210234 0.6317 hCV2783655 rs10818488 hCV30830474 rs10739590 0.510.366210234 0.5169 hCV2783655 rs10818488 hCV30830638 rs10985073 0.510.366210234 0.9671 hCV2783655 rs10818488 hCV30830725 rs7864019 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV30830832 rs10733648 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV30830909 rs11794516 0.510.366210234 0.9671 hCV2783655 rs10818488 hCV7577254 rs942152 0.510.366210234 0.3797 hCV2783655 rs10818488 hCV7577317 rs1323472 0.510.366210234 0.6604 hCV2783655 rs10818488 hCV7577331 rs1468673 0.510.366210234 0.6604 hCV2783655 rs10818488 hCV7577344 rs876445 0.510.366210234 0.6687 hCV2783655 rs10818488 hCV782875 rs746182 0.510.366210234 0.4513 hCV2783677 rs2269066 hCV2783682 rs7861142 0.510.847112965 1 hCV29005933 rs7042135 hCV11720402 rs17611 0.51 0.9260056250.9646 hCV29005933 rs7042135 hCV15755658 rs2300934 0.51 0.926005625 1hCV29005933 rs7042135 hCV16234785 rs2416811 0.51 0.926005625 0.9646hCV29005933 rs7042135 hCV2359571 rs25681 0.51 0.926005625 0.9646hCV29005933 rs7042135 hCV26144282 rs10818499 0.51 0.926005625 0.9646hCV29005933 rs7042135 hCV26144291 rs4570235 0.51 0.926005625 0.9646hCV29005933 rs7042135 hCV2783711 rs10733650 0.51 0.926005625 0.9646hCV29005933 rs7042135 hCV29005936 rs6478498 0.51 0.926005625 1hCV29005933 rs7042135 hCV29734592 rs10435889 0.51 0.926005625 0.9635hCV29005933 rs7042135 hCV30167357 rs7022941 0.51 0.926005625 0.928hCV29005933 rs7042135 hCV30830415 rs7855998 0.51 0.926005625 1hCV29005933 rs7042135 hCV30830427 rs10760142 0.51 0.926005625 1hCV29005933 rs7042135 hCV7577337 rs993247 0.51 0.926005625 0.9646hCV29005978 rs7021206 hCV11266229 rs10435844 0.51 0.423423973 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0.51 0.518235842 0.8522hCV30830641 rs4837839 hCV26144368 rs4836845 0.51 0.518235842 0.8888hCV30830641 rs4837839 hCV27492705 rs3810942 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV27912354 rs4836847 0.51 0.518235842 0.8942hCV30830641 rs4837839 hCV27912355 rs4837834 0.51 0.518235842 0.7919hCV30830641 rs4837839 hCV27967328 rs4836848 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV27988905 rs4836843 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV28010799 rs4240466 0.51 0.518235842 0.8948hCV30830641 rs4837839 hCV28010800 rs4837827 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV28032606 rs4837818 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV28032607 rs4556152 0.51 0.518235842 0.8942hCV30830641 rs4837839 hCV28032608 rs4837835 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV2973085 rs10818523 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV2973086 rs10513365 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830586 rs10760162 0.51 0.518235842 0.8223hCV30830641 rs4837839 hCV30830588 rs4837819 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830589 rs10760163 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830590 rs4837820 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830591 rs10760164 0.51 0.518235842 0.8942hCV30830641 rs4837839 hCV30830597 rs4836842 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830606 rs10739593 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830607 rs10760165 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830609 rs4837826 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV30830616 rs13292100 0.51 0.518235842 0.8619hCV30830641 rs4837839 hCV578200 rs767769 0.51 0.518235842 0.6913hCV30830641 rs4837839 hCV7577193 rs913763 0.51 0.518235842 0.8961hCV30830641 rs4837839 hCV8605563 rs10739594 0.51 0.518235842 0.8961hCV30830725 rs7864019 hCV11266229 rs10435844 0.51 0.424658012 1hCV30830725 rs7864019 hCV11266268 rs10760121 0.51 0.424658012 0.9666hCV30830725 rs7864019 hCV11720350 rs2057469 0.51 0.424658012 0.4465hCV30830725 rs7864019 hCV11720413 rs1930782 0.51 0.424658012 0.6687hCV30830725 rs7864019 hCV11720414 rs1930781 0.51 0.424658012 1hCV30830725 rs7864019 hCV15849105 rs2900185 0.51 0.424658012 0.4708hCV30830725 rs7864019 hCV15849116 rs2900180 0.51 0.424658012 1hCV30830725 rs7864019 hCV15870898 rs2072438 0.51 0.424658012 0.6467hCV30830725 rs7864019 hCV16124825 rs2109895 0.51 0.424658012 1hCV30830725 rs7864019 hCV16175379 rs2239657 0.51 0.424658012 0.9664hCV30830725 rs7864019 hCV16234795 rs2416804 0.51 0.424658012 0.6341hCV30830725 rs7864019 hCV16234838 rs2416819 0.51 0.424658012 0.4465hCV30830725 rs7864019 hCV16234840 rs2416817 0.51 0.424658012 0.4708hCV30830725 rs7864019 hCV1632195 rs1998505 0.51 0.424658012 0.4708hCV30830725 rs7864019 hCV1761888 rs1953126 0.51 0.424658012 0.9666hCV30830725 rs7864019 hCV1761891 rs1930778 0.51 0.424658012 0.9602hCV30830725 rs7864019 hCV1761894 rs1609810 0.51 0.424658012 0.9609hCV30830725 rs7864019 hCV2359565 rs1014530 0.51 0.424658012 0.6687hCV30830725 rs7864019 hCV25613469 rs10760157 0.51 0.424658012 0.4465hCV30830725 rs7864019 hCV25751916 rs10985070 0.51 0.424658012 0.6467hCV30830725 rs7864019 hCV25771057 rs10760150 0.51 0.424658012 0.4708hCV30830725 rs7864019 hCV2783582 rs10818482 0.51 0.424658012 0.6467hCV30830725 rs7864019 hCV2783586 rs2270231 0.51 0.424658012 0.9666hCV30830725 rs7864019 hCV2783589 rs881375 0.51 0.424658012 0.9666hCV30830725 rs7864019 hCV2783590 rs6478486 0.51 0.424658012 0.9666hCV30830725 rs7864019 hCV2783591 rs1468671 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783593 rs1548783 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783597 rs1860824 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783599 rs7046108 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783604 rs10760126 0.51 0.424658012 0.6875hCV30830725 rs7864019 hCV2783607 rs9886724 0.51 0.424658012 0.6785hCV30830725 rs7864019 hCV2783608 rs4836834 0.51 0.424658012 0.6687hCV30830725 rs7864019 hCV2783609 rs2241003 0.51 0.424658012 0.9321hCV30830725 rs7864019 hCV2783611 rs10435843 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783618 rs2239658 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783620 rs7021880 0.51 0.424658012 0.9301hCV30830725 rs7864019 hCV2783621 rs2416805 0.51 0.424658012 1hCV30830725 rs7864019 hCV2783622 rs758959 0.51 0.424658012 1 hCV30830725rs7864019 hCV2783625 rs10118357 0.51 0.424658012 0.6645 hCV30830725rs7864019 hCV2783630 rs2269060 0.51 0.424658012 0.6687 hCV30830725rs7864019 hCV2783633 rs7021049 0.51 0.424658012 0.6687 hCV30830725rs7864019 hCV2783634 rs1014529 0.51 0.424658012 1 hCV30830725 rs7864019hCV2783635 rs1930780 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783638rs3761846 0.51 0.424658012 0.6687 hCV30830725 rs7864019 hCV2783640rs3761847 0.51 0.424658012 0.6341 hCV30830725 rs7864019 hCV2783641rs2416806 0.51 0.424658012 1 hCV30830725 rs7864019 hCV2783647 rs107395800.51 0.424658012 1 hCV30830725 rs7864019 hCV2783650 rs10760129 0.510.424658012 0.6687 hCV30830725 rs7864019 hCV2783653 rs10760130 0.510.424658012 0.6687 hCV30830725 rs7864019 hCV2783655 rs10818488 0.510.424658012 0.6687 hCV30830725 rs7864019 hCV2783656 rs4837804 0.510.424658012 0.8956 hCV30830725 rs7864019 hCV2783659 rs7039505 0.510.424658012 1 hCV30830725 rs7864019 hCV27912350 rs4837808 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV27912351 rs4837809 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV29005924 rs7031128 0.510.424658012 0.4264 hCV30830725 rs7864019 hCV29005976 rs7037195 0.510.424658012 0.6687 hCV30830725 rs7864019 hCV29005978 rs7021206 0.510.424658012 1 hCV30830725 rs7864019 hCV29006006 rs7034390 0.510.424658012 0.9666 hCV30830725 rs7864019 hCV30059070 rs10156413 0.510.424658012 0.5258 hCV30830725 rs7864019 hCV3045792 rs6478499 0.510.424658012 0.4879 hCV30830725 rs7864019 hCV3045801 rs2057465 0.510.424658012 0.4332 hCV30830725 rs7864019 hCV30563729 rs9299273 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV30830468 rs10818507 0.510.424658012 0.4539 hCV30830725 rs7864019 hCV30830473 rs7036649 0.510.424658012 0.4705 hCV30830725 rs7864019 hCV30830475 rs10733652 0.510.424658012 0.4269 hCV30830725 rs7864019 hCV30830484 rs10818508 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV30830486 rs10760149 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV30830503 rs4837811 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV30830512 rs10818512 0.510.424658012 0.4465 hCV30830725 rs7864019 hCV30830521 rs10818513 0.510.424658012 0.4465 hCV30830725 rs7864019 hCV30830536 rs7047038 0.510.424658012 0.4465 hCV30830725 rs7864019 hCV30830638 rs10985073 0.510.424658012 0.6467 hCV30830725 rs7864019 hCV30830832 rs10733648 0.510.424658012 1 hCV30830725 rs7864019 hCV30830909 rs11794516 0.510.424658012 0.6467 hCV30830725 rs7864019 hCV7577250 rs942153 0.510.424658012 0.4465 hCV30830725 rs7864019 hCV7577271 rs1535655 0.510.424658012 0.4465 hCV30830725 rs7864019 hCV7577287 rs1323478 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV7577296 rs1407910 0.510.424658012 0.4708 hCV30830725 rs7864019 hCV7577344 rs876445 0.510.424658012 1 hCV7577317 rs1323472 hCV11720351 rs1885995 0.510.765562317 0.78 hCV7577317 rs1323472 hCV15751719 rs2146838 0.510.765562317 0.78 hCV7577317 rs1323472 hCV26144307 rs1016468 0.510.765562317 0.78 hCV7577317 rs1323472 hCV2783718 rs10818500 0.510.765562317 1 hCV7577317 rs1323472 hCV30830419 rs10985140 0.510.765562317 0.9672 hCV7577317 rs1323472 hCV30830474 rs10739590 0.510.765562317 0.7677 hCV7577317 rs1323472 hCV7577331 rs1468673 0.510.765562317 1 hCV7577337 rs993247 hCV11720383 rs1951784 0.51 0.8883082330.9293 hCV7577337 rs993247 hCV11720402 rs17611 0.51 0.888308233 1hCV7577337 rs993247 hCV15751718 rs2296078 0.51 0.888308233 0.8957hCV7577337 rs993247 hCV15755658 rs2300934 0.51 0.888308233 0.9646hCV7577337 rs993247 hCV16234785 rs2416811 0.51 0.888308233 1 hCV7577337rs993247 hCV1632190 rs10760146 0.51 0.888308233 0.9293 hCV7577337rs993247 hCV2359571 rs25681 0.51 0.888308233 1 hCV7577337 rs993247hCV25968825 rs10818504 0.51 0.888308233 0.9293 hCV7577337 rs993247hCV26144282 rs10818499 0.51 0.888308233 1 hCV7577337 rs993247hCV26144291 rs4570235 0.51 0.888308233 1 hCV7577337 rs993247 hCV26144296rs10760143 0.51 0.888308233 0.9279 hCV7577337 rs993247 hCV27476319rs3747843 0.51 0.888308233 0.8957 hCV7577337 rs993247 hCV2783711rs10733650 0.51 0.888308233 1 hCV7577337 rs993247 hCV29005933 rs70421350.51 0.888308233 0.9646 hCV7577337 rs993247 hCV29005936 rs6478498 0.510.888308233 0.9646 hCV7577337 rs993247 hCV29734592 rs10435889 0.510.888308233 1 hCV7577337 rs993247 hCV29824827 rs9657673 0.51 0.8883082330.9251 hCV7577337 rs993247 hCV30041036 rs10156476 0.51 0.8883082330.9286 hCV7577337 rs993247 hCV30167357 rs7022941 0.51 0.888308233 0.9642hCV7577337 rs993247 hCV3045797 rs7036541 0.51 0.888308233 0.9272hCV7577337 rs993247 hCV3045800 rs3736855 0.51 0.888308233 0.9293hCV7577337 rs993247 hCV30830340 rs10760134 0.51 0.888308233 0.8956hCV7577337 rs993247 hCV30830341 rs7040033 0.51 0.888308233 0.8956hCV7577337 rs993247 hCV30830415 rs7855998 0.51 0.888308233 0.9646hCV7577337 rs993247 hCV30830427 rs10760142 0.51 0.888308233 0.9646hCV7577337 rs993247 hCV30830440 rs10760144 0.51 0.888308233 0.9293hCV7577337 rs993247 hCV30830506 rs10760151 0.51 0.888308233 0.9293hCV7577337 rs993247 hCV30830537 rs10818515 0.51 0.888308233 0.8946hCV7577337 rs993247 hCV30830539 rs10760153 0.51 0.888308233 0.9287hCV7577337 rs993247 hCV30830540 rs10760154 0.51 0.888308233 0.8956hCV7577337 rs993247 hCV30830541 rs10760155 0.51 0.888308233 0.8957hCV7577337 rs993247 hCV30830542 rs10760156 0.51 0.888308233 0.8894hCV7577337 rs993247 hCV7577235 rs1052508 0.51 0.888308233 0.8957hCV7577337 rs993247 hCV7577249 rs1359085 0.51 0.888308233 0.8957hCV7577344 rs876445 hCV11266229 rs10435844 0.51 0.411716825 1 hCV7577344rs876445 hCV11266268 rs10760121 0.51 0.411716825 0.9666 hCV7577344rs876445 hCV11720350 rs2057469 0.51 0.411716825 0.4465 hCV7577344rs876445 hCV11720413 rs1930782 0.51 0.411716825 0.6687 hCV7577344rs876445 hCV11720414 rs1930781 0.51 0.411716825 1 hCV7577344 rs876445hCV15849105 rs2900185 0.51 0.411716825 0.4708 hCV7577344 rs876445hCV15849116 rs2900180 0.51 0.411716825 1 hCV7577344 rs876445 hCV15870898rs2072438 0.51 0.411716825 0.6467 hCV7577344 rs876445 hCV16124825rs2109895 0.51 0.411716825 1 hCV7577344 rs876445 hCV16175379 rs22396570.51 0.411716825 0.9664 hCV7577344 rs876445 hCV16234795 rs2416804 0.510.411716825 0.6341 hCV7577344 rs876445 hCV16234838 rs2416819 0.510.411716825 0.4465 hCV7577344 rs876445 hCV16234840 rs2416817 0.510.411716825 0.4708 hCV7577344 rs876445 hCV1632195 rs1998505 0.510.411716825 0.4708 hCV7577344 rs876445 hCV1761888 rs1953126 0.510.411716825 0.9666 hCV7577344 rs876445 hCV1761891 rs1930778 0.510.411716825 0.9602 hCV7577344 rs876445 hCV1761894 rs1609810 0.510.411716825 0.9609 hCV7577344 rs876445 hCV2359565 rs1014530 0.510.411716825 0.6687 hCV7577344 rs876445 hCV25613469 rs10760157 0.510.411716825 0.4465 hCV7577344 rs876445 hCV25751916 rs10985070 0.510.411716825 0.6467 hCV7577344 rs876445 hCV25771057 rs10760150 0.510.411716825 0.4708 hCV7577344 rs876445 hCV2783582 rs10818482 0.510.411716825 0.6467 hCV7577344 rs876445 hCV2783586 rs2270231 0.510.411716825 0.9666 hCV7577344 rs876445 hCV2783589 rs881375 0.510.411716825 0.9666 hCV7577344 rs876445 hCV2783590 rs6478486 0.510.411716825 0.9666 hCV7577344 rs876445 hCV2783591 rs1468671 0.510.411716825 1 hCV7577344 rs876445 hCV2783593 rs1548783 0.51 0.4117168251 hCV7577344 rs876445 hCV2783597 rs1860824 0.51 0.411716825 1 hCV7577344rs876445 hCV2783599 rs7046108 0.51 0.411716825 1 hCV7577344 rs876445hCV2783604 rs10760126 0.51 0.411716825 0.6875 hCV7577344 rs876445hCV2783607 rs9886724 0.51 0.411716825 0.6785 hCV7577344 rs876445hCV2783608 rs4836834 0.51 0.411716825 0.6687 hCV7577344 rs876445hCV2783609 rs2241003 0.51 0.411716825 0.9321 hCV7577344 rs876445hCV2783611 rs10435843 0.51 0.411716825 1 hCV7577344 rs876445 hCV2783618rs2239658 0.51 0.411716825 1 hCV7577344 rs876445 hCV2783620 rs70218800.51 0.411716825 0.9301 hCV7577344 rs876445 hCV2783621 rs2416805 0.510.411716825 1 hCV7577344 rs876445 hCV2783622 rs758959 0.51 0.411716825 1hCV7577344 rs876445 hCV2783625 rs10118357 0.51 0.411716825 0.6645hCV7577344 rs876445 hCV2783630 rs2269060 0.51 0.411716825 0.6687hCV7577344 rs876445 hCV2783633 rs7021049 0.51 0.411716825 0.6687hCV7577344 rs876445 hCV2783634 rs1014529 0.51 0.411716825 1 hCV7577344rs876445 hCV2783635 rs1930780 0.51 0.411716825 1 hCV7577344 rs876445hCV2783638 rs3761846 0.51 0.411716825 0.6687 hCV7577344 rs876445hCV2783640 rs3761847 0.51 0.411716825 0.6341 hCV7577344 rs876445hCV2783641 rs2416806 0.51 0.411716825 1 hCV7577344 rs876445 hCV2783647rs10739580 0.51 0.411716825 1 hCV7577344 rs876445 hCV2783650 rs107601290.51 0.411716825 0.6687 hCV7577344 rs876445 hCV2783653 rs10760130 0.510.411716825 0.6687 hCV7577344 rs876445 hCV2783655 rs10818488 0.510.411716825 0.6687 hCV7577344 rs876445 hCV2783656 rs4837804 0.510.411716825 0.8956 hCV7577344 rs876445 hCV2783659 rs7039505 0.510.411716825 1 hCV7577344 rs876445 hCV27912350 rs4837808 0.51 0.4117168250.4708 hCV7577344 rs876445 hCV27912351 rs4837809 0.51 0.411716825 0.4708hCV7577344 rs876445 hCV29005923 rs6478494 0.51 0.411716825 0.4238hCV7577344 rs876445 hCV29005924 rs7031128 0.51 0.411716825 0.4264hCV7577344 rs876445 hCV29005976 rs7037195 0.51 0.411716825 0.6687hCV7577344 rs876445 hCV29005978 rs7021206 0.51 0.411716825 1 hCV7577344rs876445 hCV29006006 rs7034390 0.51 0.411716825 0.9666 hCV7577344rs876445 hCV30059070 rs10156413 0.51 0.411716825 0.5258 hCV7577344rs876445 hCV3045792 rs6478499 0.51 0.411716825 0.4879 hCV7577344rs876445 hCV3045801 rs2057465 0.51 0.411716825 0.4332 hCV7577344rs876445 hCV30563729 rs9299273 0.51 0.411716825 0.4708 hCV7577344rs876445 hCV30830414 rs7871371 0.51 0.411716825 0.417 hCV7577344rs876445 hCV30830468 rs10818507 0.51 0.411716825 0.4539 hCV7577344rs876445 hCV30830473 rs7036649 0.51 0.411716825 0.4705 hCV7577344rs876445 hCV30830475 rs10733652 0.51 0.411716825 0.4269 hCV7577344rs876445 hCV30830484 rs10818508 0.51 0.411716825 0.4708 hCV7577344rs876445 hCV30830486 rs10760149 0.51 0.411716825 0.4708 hCV7577344rs876445 hCV30830503 rs4837811 0.51 0.411716825 0.4708 hCV7577344rs876445 hCV30830512 rs10818512 0.51 0.411716825 0.4465 hCV7577344rs876445 hCV30830521 rs10818513 0.51 0.411716825 0.4465 hCV7577344rs876445 hCV30830536 rs7047038 0.51 0.411716825 0.4465 hCV7577344rs876445 hCV30830638 rs10985073 0.51 0.411716825 0.6467 hCV7577344rs876445 hCV30830725 rs7864019 0.51 0.411716825 1 hCV7577344 rs876445hCV30830832 rs10733648 0.51 0.411716825 1 hCV7577344 rs876445hCV30830909 rs11794516 0.51 0.411716825 0.6467 hCV7577344 rs876445hCV7577250 rs942153 0.51 0.411716825 0.4465 hCV7577344 rs876445hCV7577271 rs1535655 0.51 0.411716825 0.4465 hCV7577344 rs876445hCV7577287 rs1323478 0.51 0.411716825 0.4708 hCV7577344 rs876445hCV7577296 rs1407910 0.51 0.411716825 0.4708 hCV8780517 rs1056567hCV1452630 rs10818476 0.51 0.48547946 0.4886 hCV8780517 rs1056567hCV1452665 rs4837796 0.51 0.48547946 0.4886 hCV8780517 rs1056567hCV1761881 rs3933326 0.51 0.48547946 0.9646 hCV8780517 rs1056567hCV22272588 rs10760117 0.51 0.48547946 0.4886 hCV8780517 rs1056567hCV25612709 rs7026635 0.51 0.48547946 0.7608 hCV8780517 rs1056567hCV25757804 rs4836833 0.51 0.48547946 1 hCV8780517 rs1056567 hCV8780961rs914842 0.51 0.48547946 0.5969 hCV8780517 rs1056567 hCV8780962 rs18370.51 0.48547946 0.7943 hCV8780962 rs1837 hCV1452630 rs10818476 0.510.414165706 0.4622 hCV8780962 rs1837 hCV1452651 rs3793638 0.510.414165706 0.4281 hCV8780962 rs1837 hCV1452652 rs1060817 0.510.414165706 0.4281 hCV8780962 rs1837 hCV1452665 rs4837796 0.510.414165706 0.4622 hCV8780962 rs1837 hCV1761881 rs3933326 0.510.414165706 0.7653 hCV8780962 rs1837 hCV22272588 rs10760117 0.510.414165706 0.4622 hCV8780962 rs1837 hCV25612709 rs7026635 0.510.414165706 0.8902 hCV8780962 rs1837 hCV25757804 rs4836833 0.510.414165706 0.7943 hCV8780962 rs1837 hCV26144018 rs10739575 0.510.414165706 0.5329 hCV8780962 rs1837 hCV2783659 rs7039505 0.510.414165706 0.4242 hCV8780962 rs1837 hCV30829523 rs12343516 0.510.414165706 0.4281 hCV8780962 rs1837 hCV8780517 rs1056567 0.510.414165706 0.7943 hCV8780962 rs1837 hCV8780961 rs914842 0.510.414165706 0.6923

TABLE 5 Minor allele frequencies and allele-based association of chr9q33 SNPs with RA (SAMPLE SET 1 - 475 Cases/475 Controls) ControlPosition & Case Genotypes Genotypes Marker Gene Type Alleles^(a) 11 1222 MAF^(b) HW^(c) 11 12 22 rs10984984 MEGF9 intronic T122503297C 4 73394 0.086 0.766 3 62 405 rs10760112 MEGF9 intronic C122507391T 62 187223 0.329 0.028 43 163 261 rs10985014 G122538111A 13 117 341 0.152 0.47212 93 364 rs7026635 FBXW2 intronic G122589848A 40 185 247 0.281 0.568 31154 285 rs1577001 LOC40237 intronic T122597128C 0 15 457 0.016 1 0 18452 rs7873274 LOC40237 intronic C122599313T 7 79 384 0.099 0.198 7 76387 rs10985044 A122603331G 15 119 338 0.158 0.296 13 97 360 rs10760117PSMD5 intronic T122626558G 99 208 157 0.438 0.059 66 198 199 rs10739575G122645922A 18 122 332 0.167 0.135 13 107 348 rs933003 A122647650G 0 21451 0.022 1 1 10 458 rs10985051 C122647701A 15 120 336 0.159 0.301 14 97358 rs13291973 T122654694G 5 64 403 0.078 0.192 4 55 410 rs1837 PHF193′UTR T122658050C 41 194 237 0.292 0.911 32 152 286 rs1056567 PHF19S181S T122671866C 55 205 212 0.334 0.606 38 182 250 rs10985070 PHF19intronic C122675942A 99 234 137 0.460 1 69 222 178 rs1953126 T122680321C61 221 184 0.368 0.765 45 197 223 rs1930777 A122680989G 4 72 396 0.0850.763 3 62 404 rs1609810 G122682172A 61 222 184 0.368 0.691 43 194 224rs10985073 T122683676C 101 230 140 0.459 0.711 70 220 178 rs7034390A122686309T 62 227 183 0.372 0.555 45 198 227 rs10818482 A122687906G 96235 139 0.454 0.926 66 220 181 rs2270231 C122690803G 62 227 182 0.3730.555 47 197 226 rs2072438 T122691122C 101 233 138 0.461 0.926 69 223176 rs881375 T122692719C 62 228 182 0.373 0.555 47 198 223 rs6478486T122695150C 63 226 182 0.374 0.623 45 197 227 rs1860824 G122699160T 62226 184 0.371 0.622 45 197 228 rs10760126 T122702439C 101 230 140 0.4590.711 68 222 180 rs4836834 TRAF1 3′UTR T122705722A 101 231 140 0.4590.781 68 222 180 rs10435844 TRAF1 intronic G122708020T 62 226 183 0.3720.622 45 197 228 rs2239657 TRAF1 P340P G122711341A 62 224 184 0.3700.693 45 195 229 rs12377786 TRAF1 intronic G122711580T 0 4 468 0.004 1 03 467 rs2239658 TRAF1 intronic T122711658C 62 225 184 0.370 0.623 45 195228 rs7021880 TRAF1 intronic C122713711G 51 225 195 0.347 0.265 34 187249 rs3747841 TRAF1 S170S A122715622G 0 15 455 0.016 1 0 6 464 rs2416804TRAF1 intronic G122716217C 101 229 142 0.457 0.643 67 221 181 rs2416805TRAF1 intronic T122716303C 62 227 183 0.372 0.555 46 195 229 rs876445TRAF1 intronic A122716923T 62 226 183 0.372 0.622 45 197 228 rs10118357TRAF1 intronic G122719889A 103 228 140 0.461 0.579 68 222 180 rs2269059TRAF1 intronic A122722293T 3 74 395 0.085 1 4 61 405 rs2191959 TRAF1intronic A122723655T 3 74 395 0.085 1 3 62 405 rs7021049 TRAF1 intronicG122723803T 103 229 140 0.461 0.643 68 222 180 rs7021206 TRAF1 intronicG122723978A 62 223 184 0.370 0.693 45 194 228 rs1014529 TRAF1 intronicC122724764G 62 226 183 0.372 0.622 45 197 228 rs1930781 TRAF1 intronicG122727655A 63 225 183 0.373 0.694 45 197 227 rs1930782 TRAF1 intronicC122727726T 97 234 140 0.454 1 66 219 183 rs3761846 C122729418T 98 234140 0.456 1 68 219 183 rs2416806 G122730113C 62 224 185 0.369 0.693 45196 228 rs7864019 A122732689T 61 228 182 0.372 0.490 46 196 228rs10760130 G122741811A 98 230 141 0.454 0.852 68 223 177 rs10818488A122744908G 97 233 140 0.454 1 68 220 181 rs2900180 T122746203C 59 222185 0.365 0.617 45 194 223 rs10760131 G122749962T 0 20 446 0.021 1 0 9451 rs12004487 C5 intronic C122756502T 5 74 386 0.090 0.407 3 67 398rs16910233 C5 intronic G122763432C 0 4 468 0.004 1 0 3 465 rs2269066 C5intronic T122776839C 5 86 381 0.102 1 1 67 401 rs2269067 C5 intronicC122776861G 23 150 299 0.208 0.484 13 138 317 rs2159776 C5 intronicC122795981T 98 242 131 0.465 0.517 87 221 160 rs10760134 C5 intronicC122798246T 80 244 146 0.430 0.222 106 233 131 rs7040033 C5 intronicA122798865G 83 243 146 0.433 0.348 107 232 131 rs10760135 C5 intronicT122802827C 102 233 132 0.468 1 87 219 157 rs17611 C5 I802V A122809021G80 238 149 0.426 0.395 106 230 129 rs10818496 C5 intronic G122814284A 71225 176 0.389 1 69 205 196 rs10985126 C5 G385G C122823755T 14 149 3090.188 0.545 12 134 323 rs993247 C5 intronic G122825070A 77 245 149 0.4240.186 106 231 132 rs2416811 C5 intronic T122829455C 76 247 146 0.4250.108 108 230 132 rs10156396 C5 intronic T122830953C 23 182 265 0.2430.314 24 150 295 rs10985132 C5 intronic T122835515C 23 183 266 0.2430.261 24 150 295 rs10818499 C5 intronic A122839915T 77 247 148 0.4250.133 106 230 134 rs9644911 C5 intronic G122848925A 23 185 264 0.2450.214 24 150 295 rs10739585 C5 intronic G122849360C 23 185 263 0.2450.214 24 150 295 rs7871371 T122855883C 23 183 265 0.243 0.261 25 149 295rs7855998 T122855917C 77 249 146 0.427 0.110 105 231 134 rs7029523T122857434C 22 183 264 0.242 0.208 24 150 295 rs1924081 A122862268T 23182 266 0.242 0.314 24 150 296 rs1323472 C122866156G 79 247 146 0.4290.159 72 211 186 rs7042135 T122876474C 77 244 150 0.423 0.219 105 230133 rs6478498 A122877723G 78 247 147 0.427 0.158 105 231 134 rs7856420G122878978C 39 219 212 0.316 0.109 39 192 237 rs10739586 T122881893A 40217 215 0.315 0.166 39 189 242 rs6478499 A122882694G 35 213 223 0.3000.124 38 182 250 rs4837808 A122886441G 35 214 222 0.301 0.101 38 182 250rs12685539 CEP110 intronic G122896746T 0 8 464 0.008 1 1 5 464rs10760146 CEP110 intronic T122896906C 73 248 151 0.417 0.089 105 228137 rs9299273 CEP110 intronic T122898251A 35 216 217 0.306 0.065 38 187245 rs9657673 CEP110 intronic T122900196C 72 247 152 0.415 0.089 106 227137 rs7022941 CEP110 intronic G122907291C 73 248 151 0.417 0.089 105 226138 rs1998506 CEP110 intronic G122910284A 40 219 213 0.317 0.137 39 193238 rs4837809 CEP110 intronic T122913032G 36 217 219 0.306 0.083 38 187244 rs1407910 CEP110 intronic T122915251C 36 216 219 0.306 0.103 38 185246 rs2146838 CEP110 intronic G122916126A 83 246 143 0.436 0.224 77 220173 rs1951784 CEP110 intronic G122916272A 74 246 152 0.417 0.131 104 229136 rs10818508 CEP110 intronic G122922855A 35 215 220 0.303 0.081 39 186245 rs10081760 CEP110 intronic A122924127G 40 219 212 0.317 0.136 37 194239 rs2900185 CEP110 intronic A122927191G 36 215 218 0.306 0.103 37 187246 rs4837811 CEP110 intronic T122941415G 36 216 219 0.306 0.103 38 187244 rs2068055 CEP110 intronic T122943988A 10 114 346 0.143 0.850 12 103354 rs10760151 CEP110 intronic G122945183A 78 244 150 0.424 0.221 108228 133 rs7036541 CEP110 intronic G122945456C 80 243 149 0.427 0.301 108229 133 rs12683062 CEP110 intronic T122946625G 6 100 366 0.119 1 7 93369 rs3747843 CEP110 intronic A122954127G 120 246 104 0.517 0.311 106236 127 rs3736855 CEP110 V1398V A122956841T 80 242 150 0.426 0.346 106230 134 rs10818512 CEP110 intronic A122957176G 37 214 221 0.305 0.158 38183 249 rs3736856 CEP110 intronic G122960384A 94 232 142 0.449 1 85 216167 rs2057466 CEP110 intronic T122966751C 40 219 211 0.318 0.136 39 193238 rs1535655 CEP110 intronic G122968390A 35 215 220 0.303 0.081 38 186245 rs2146836 CEP110 intronic A122970117C 40 218 212 0.317 0.137 37 193240 rs2302498 CEP110 intronic A122976150T 79 241 151 0.424 0.345 77 216177 rs7047038 RAB14 intronic T122986768G 35 215 221 0.303 0.082 38 182242 rs10760152 RAB14 intronic A122987806C 37 213 221 0.305 0.158 38 188244 rs10760153 RAB14 intronic C122988196T 79 243 148 0.427 0.258 107 229131 rs942152 RAB14 intronic C122991506T 89 242 140 0.446 0.403 87 221161 rs9408928 RAB14 intronic C122991738T 2 49 421 0.056 0.651 5 36 429rs9409230 T123007581A 1 49 417 0.055 1 4 34 426 rs7030849 C123009655T 82246 144 0.434 0.223 78 216 174 rs747846 T123022431G 51 183 238 0.3020.081 50 176 243 rs12343027 T123027074C 3 48 421 0.057 0.188 1 49 420rs4837817 C123034984G 11 106 354 0.136 0.331 13 110 347 rs4595204T123056182A 0 33 439 0.035 1 2 31 436 rs10985196 GSN intronicA123072865C 20 176 275 0.229 0.242 18 145 306 rs306781 GSN intronicC123082765T 0 9 463 0.010 1 1 21 448 rs11787991 GSN intronic T123086454G1 28 443 0.032 0.379 0 37 431 rs7046030 GSN intronic C123087058T 19 165283 0.217 0.496 17 135 312 rs12683459 GSN intronic A123088119G 19 170283 0.220 0.349 17 140 313 rs11788156 GSN intronic C123111661G 0 39 4330.041 1 2 33 435 rs4837839 GSN intronic T123111948C 94 223 154 0.4360.453 122 224 123 rs306783 GSN intronic T123112418C 100 235 136 0.462 181 236 151 rs306784 GSN intronic T123112473G 69 236 165 0.398 0.336 58219 191 rs10818527 GSN intronic A123115075G 60 225 186 0.366 0.553 42205 222 rs16910509 GSN intronic T123123292C 13 98 361 0.131 0.066 16 79375 rs2304393 GSN G471G T123123435C 1 39 427 0.044 0.601 1 42 421rs12683989 GSN intronic T123125867C 1 50 421 0.055 1 0 47 423 rs1560980GSN intronic C123133818G 1 31 439 0.035 0.440 1 31 435 rs7039494 GSNintronic T123134411A 12 136 324 0.169 0.744 18 108 341 rs12340264 STOMintronic T123149742C 6 72 394 0.089 0.246 6 77 386 rs12554081 STOMintronic A123165145C 13 117 342 0.151 0.472 19 89 362 rs17086 STOMintronic G123165341A 68 203 200 0.360 0.162 69 190 210 rs10818531 STOMintronic T123168845C 1 39 432 0.043 0.597 1 42 425 rs367395 STOMintronic T123171333G 9 106 357 0.131 0.688 13 82 375 Genotypic MarkerMAF HW^(c) OR (95% CI) P^(d) P^(e) rs10984984 0.072 0.725 1.21(0.86-1.69) 0.2768 0.563 rs10760112 0.267 0.024 1.35 (1.11-1.65) 0.00470.018 rs10985014 0.125 0.055 1.26 (0.97-1.63) 0.0991 0.174 rs70266350.230 0.117 1.31 (1.06-1.61) 0.0135 0.036 rs1577001 0.019 1 0.83(0.41-1.65) 0.5864 0.589 rs7873274 0.096 0.175 1.04 (0.76-1.41) 0.82030.966 rs10985044 0.131 0.064 1.24 (0.96-1.61) 0.1075 0.218 rs107601170.356 0.156 1.40 (1.17-1.69) 6.11E−04 0.003 rs10739575 0.142 0.183 1.21(0.94-1.56) 0.1428 0.344 rs933003 0.013 0.069 1.76 (0.86-3.59) 0.12630.116 rs10985051 0.133 0.028 1.23 (0.95-1.59) 0.1245 0.208 rs132919730.067 0.146 1.18 (0.83-1.67) 0.3634 0.664 rs1837 0.230 0.068 1.38(1.13-1.70) 0.0025 0.005 rs1056567 0.274 0.563 1.32 (1.09-1.61) 0.00590.022 rs10985070 0.384 1 1.37 (1.14-1.64) 9.07E−04 0.004 rs1953126 0.3090.913 1.30 (1.08-1.58) 0.0067 0.023 rs1930777 0.072 0.725 1.18(0.85-1.66) 0.3277 0.629 rs1609810 0.304 0.912 1.34 (1.10-1.62) 0.00310.012 rs10985073 0.385 0.922 1.36 (1.13-1.63) 0.0013 0.006 rs70343900.306 0.829 1.34 (1.11-1.62) 0.0026 0.009 rs10818482 0.377 1 1.38(1.14-1.65) 6.79E−04 0.003 rs2270231 0.310 0.667 1.32 (1.09-1.60) 0.00390.012 rs2072438 0.386 1 1.36 (1.13-1.64) 0.0010 0.004 rs881375 0.3120.747 1.31 (1.08-1.59) 0.0052 0.016 rs6478486 0.306 0.828 1.35(1.12-1.64) 0.0019 0.007 rs1860824 0.305 0.828 1.34 (1.11-1.62) 0.00260.009 rs10760126 0.381 1 1.38 (1.15-1.65) 6.90E−04 0.003 rs4836834 0.3811 1.38 (1.15-1.66) 6.72E−04 0.003 rs10435844 0.305 0.828 1.35(1.11-1.63) 0.0024 0.008 rs2239657 0.304 0.743 1.35 (1.11-1.63) 0.00240.008 rs12377786 0.003 1 1.33 (0.30-5.95) 0.7085 0.718 rs2239658 0.3040.743 1.34 (1.11-1.63) 0.0025 0.009 rs7021880 0.271 1 1.43 (1.17-1.74)3.12E−04 0.001 rs3747841 0.006 1 2.52 (0.98-6.53) 0.0470 0.046 rs24168040.378 1 1.38 (1.15-1.66) 6.58E−04 0.003 rs2416805 0.305 0.664 1.35(1.11-1.63) 0.0023 0.007 rs876445 0.305 0.828 1.35 (1.11-1.63) 0.00240.008 rs10118357 0.381 1 1.39 (1.16-1.67) 5.08E−04 0.002 rs2269059 0.0730.300 1.17 (0.84-1.63) 0.3656 0.481 rs2191959 0.072 0.725 1.19(0.85-1.66) 0.3176 0.568 rs7021049 0.381 1 1.39 (1.16-1.67) 4.95E−040.002 rs7021206 0.304 0.664 1.34 (1.11-1.63) 0.0026 0.009 rs10145290.305 0.828 1.35 (1.11-1.63) 0.0024 0.008 rs1930781 0.306 0.828 1.35(1.11-1.63) 0.0023 0.008 rs1930782 0.375 1 1.39 (1.15-1.67) 5.03E−040.002 rs3761846 0.378 0.845 1.38 (1.15-1.66) 6.53E−04 0.003 rs24168060.305 0.745 1.34 (1.10-1.62) 0.0031 0.011 rs7864019 0.306 0.665 1.34(1.11-1.62) 0.0028 0.008 rs10760130 0.384 0.922 1.34 (1.11-1.61) 0.00200.008 rs10818488 0.380 0.922 1.36 (1.13-1.64) 0.0011 0.005 rs29001800.307 0.744 1.29 (1.07-1.57) 0.0087 0.026 rs10760131 0.010 1 2.22(1.01-4.90) 0.0414 0.041 rs12004487 0.078 0.753 1.17 (0.85-1.63) 0.34200.608 rs16910233 0.003 1 1.32 (0.30-5.93) 0.7127 0.722 rs2269066 0.0740.498 1.43 (1.03-1.97) 0.0296 0.063 rs2269067 0.175 0.751 1.23(0.98-1.55) 0.0756 0.150 rs2159776 0.422 0.507 1.19 (0.99-1.43) 0.06110.106 rs10760134 0.473 0.926 0.84 (0.70-1.01) 0.0544 0.095 rs70400330.474 0.853 0.85 (0.71-1.02) 0.0700 0.129 rs10760135 0.424 0.506 1.19(0.99-1.43) 0.0614 0.152 rs17611 0.475 0.853 0.82 (0.68-0.98) 0.03180.074 rs10818496 0.365 0.197 1.11 (0.92-1.33) 0.2916 0.363 rs109851260.168 0.744 1.14 (0.90-1.44) 0.2731 0.539 rs993247 0.472 0.782 0.82(0.68-0.98) 0.0316 0.049 rs2416811 0.474 0.711 0.82 (0.68-0.98) 0.03020.032 rs10156396 0.211 0.405 1.20 (0.96-1.49) 0.1021 0.096 rs109851320.211 0.405 1.20 (0.96-1.49) 0.1013 0.093 rs10818499 0.470 0.711 0.83(0.69-1.00) 0.0448 0.052 rs9644911 0.211 0.405 1.21 (0.98-1.50) 0.08040.069 rs10739585 0.211 0.405 1.21 (0.98-1.51) 0.0761 0.064 rs78713710.212 0.271 1.19 (0.96-1.48) 0.1088 0.076 rs7855998 0.469 0.781 0.84(0.70-1.01) 0.0612 0.064 rs7029523 0.211 0.405 1.19 (0.96-1.48) 0.10740.080 rs1924081 0.211 0.405 1.20 (0.96-1.49) 0.1023 0.096 rs13234720.378 0.377 1.23 (1.03-1.48) 0.0246 0.019 rs7042135 0.470 0.781 0.82(0.69-0.99) 0.0360 0.057 rs6478498 0.469 0.781 0.84 (0.70-1.01) 0.06180.077 rs7856420 0.288 1 1.14 (0.94-1.39) 0.1860 0.207 rs10739586 0.2840.821 1.16 (0.95-1.41) 0.1418 0.172 rs6478499 0.274 0.563 1.14(0.93-1.39) 0.2078 0.130 rs4837808 0.274 0.563 1.14 (0.93-1.39) 0.18970.113 rs12685539 0.007 0.022 1.14 (0.41-3.15) 0.8127 0.441 rs107601460.466 0.579 0.82 (0.68-0.99) 0.0316 0.026 rs9299273 0.280 0.819 1.13(0.93-1.38) 0.2112 0.143 rs9657673 0.467 0.517 0.81 (0.67-0.97) 0.02180.017 rs7022941 0.465 0.516 0.82 (0.69-0.99) 0.0361 0.025 rs19985060.288 1 1.14 (0.94-1.39) 0.1711 0.220 rs4837809 0.280 0.819 1.13(0.93-1.38) 0.2114 0.165 rs1407910 0.278 0.730 1.14 (0.94-1.39) 0.18300.135 rs2146838 0.398 0.631 1.17 (0.98-1.41) 0.0868 0.105 rs19517840.466 0.711 0.82 (0.68-0.99) 0.0320 0.038 rs10818508 0.281 0.649 1.11(0.91-1.36) 0.2790 0.162 rs10081760 0.285 0.822 1.17 (0.96-1.42) 0.11860.198 rs2900185 0.278 0.908 1.15 (0.94-1.40) 0.1694 0.162 rs48378110.280 0.819 1.13 (0.93-1.38) 0.2191 0.176 rs2068055 0.135 0.170 1.06(0.82-1.38) 0.6592 0.664 rs10760151 0.473 0.580 0.82 (0.68-0.98) 0.02930.041 rs7036541 0.473 0.644 0.83 (0.69-0.99) 0.0413 0.064 rs126830620.114 0.648 1.05 (0.79-1.39) 0.7573 0.849 rs3747843 0.478 0.926 1.17(0.98-1.40) 0.0834 0.186 rs3736855 0.470 0.711 0.84 (0.70-1.00) 0.05130.089 rs10818512 0.276 0.566 1.15 (0.95-1.41) 0.1529 0.130 rs37368560.412 0.296 1.16 (0.97-1.39) 0.1168 0.219 rs2057466 0.288 1 1.15(0.95-1.40) 0.1522 0.195 rs1535655 0.279 0.732 1.12 (0.92-1.37) 0.24660.169 rs2146836 0.284 0.910 1.17 (0.96-1.43) 0.1115 0.186 rs23024980.394 0.440 1.13 (0.94-1.36) 0.1852 0.178 rs7047038 0.279 0.645 1.12(0.92-1.37) 0.2598 0.156 rs10760152 0.281 0.820 1.12 (0.92-1.37) 0.24920.259 rs10760153 0.474 0.711 0.82 (0.69-0.99) 0.0363 0.059 rs9421520.421 0.507 1.11 (0.92-1.33) 0.2782 0.296 rs9408928 0.049 0.003 1.16(0.77-1.73) 0.5026 0.195 rs9409230 0.045 0.010 1.22 (0.80-1.85) 0.36880.105 rs7030849 0.397 0.441 1.16 (0.97-1.40) 0.1027 0.088 rs747846 0.2940.045 1.04 (0.85-1.26) 0.7274 0.910 rs12343027 0.054 1 1.06 (0.71-1.57)0.7824 0.610 rs4837817 0.145 0.261 0.93 (0.72-1.21) 0.5914 0.858rs4595204 0.037 0.129 0.93 (0.58-1.52) 0.7864 0.285 rs10985196 0.1930.882 1.24 (1.00-1.55) 0.0506 0.094 rs306781 0.024 0.241 0.38(0.18-0.83) 0.0142 0.074 rs11787991 0.040 1 0.80 (0.49-1.30) 0.36330.329 rs7046030 0.182 0.640 1.25 (0.99-1.57) 0.0563 0.106 rs126834590.185 0.760 1.24 (0.99-1.56) 0.0550 0.106 rs11788156 0.039 0.155 1.05(0.66-1.66) 0.8301 0.234 rs4837839 0.499 0.356 0.78 (0.65-0.93) 0.00780.029 rs306783 0.425 0.570 1.16 (0.97-1.39) 0.1078 0.251 rs306784 0.3580.763 1.19 (0.98-1.43) 0.0697 0.176 rs10818527 0.308 0.665 1.30(1.07-1.57) 0.0070 0.026 rs16910509 0.118 1.61E−04 1.13 (0.86-1.48)0.4142 0.274 rs2304393 0.047 1 0.92 (0.60-1.43) 0.7163 0.938 rs126839890.050 0.620 1.11 (0.74-1.66) 0.6148 0.554 rs1560980 0.035 0.443 1.01(0.62-1.65) 0.9548 0.999 rs7039494 0.154 0.020 1.12 (0.88-1.43) 0.37750.091 rs12340264 0.095 0.289 0.93 (0.68-1.27) 0.6657 0.889 rs125540810.135 2.00E−04 1.14 (0.88-1.48) 0.3355 0.065 rs17086 0.350 0.019 1.05(0.87-1.26) 0.6577 0.713 rs10818531 0.047 1 0.92 (0.60-1.42) 0.70920.935 rs367395 0.115 0.005 1.16 (0.88-1.53) 0.2945 0.123 ^(a)Positionsaccording to genomic conting NT_008470.18 (Entrez Nucleotide). The minorallele is listed first, followed by the position in National Center forBiotechnology Information Genome Build 36.2 and then the major allele.^(b)MAF is the minor allele frequency. ^(c)Hardy-Weinberg equilibriumtesting was accomplished through the exact test of Weir as described inthe Materials and Methods. ^(d)Calculated using Cochran-Armitage Trendtest. ^(e)Calculated using William's-corrected G test.

TABLE 6 Minor allele frequencies and allele-based association of chr9q33 SNPs with RA (SAMPLE SET 2 - 661 Cases/1322 Controls) ControlPosition & Case Genotypes Genotypes Marker Gene Type Alleles^(a) 11 1222 MAF^(b) HW^(c) 11 12 22 rs10984984 MEGF9 intronic T122503297Crs10760112 MEGF9 intronic C122507391T 62 289 308 0.313 0.652 105 572 639rs10985014 G122538111A 10 160 489 0.137 0.513 22 325 969 rs7026635 FBXW2intronic G122589848A 46 272 341 0.276 0.437 67 505 745 rs1577001LOC402377 intronic T122597128C 1 29 629 0.024 0.303 0 54 1263 rs7873274LOC402377 intronic C122599313T 9 136 513 0.117 1 16 239 1058 rs10985044A122603331G rs10760117 PSMD5 intronic T122626558G 107 342 209 0.4220.110 195 649 474 rs10739575 G122645922A 14 202 443 0.175 0.135 25 349942 rs933003 A122647650G 0 32 627 0.024 1 0 56 1260 rs10985051C122647701A 15 167 477 0.149 0.879 24 347 946 rs13291973 T122654694G 797 554 0.084 0.212 9 200 1107 rs1837 PHF19 3′UTR T122658050C 44 285 3300.283 0.103 72 514 731 rs1056567 PHF19 S181S T122671866C 65 320 2740.341 0.046 104 571 641 rs10985070 PHF19 intronic C122675942A rs1953126T122680321C 87 319 250 0.376 0.405 125 561 632 rs1930777 A122680989Grs1609810 G122682172A 87 325 245 0.380 0.215 125 558 633 rs10985073T122683676C rs7034390 A122686309T rs10818482 A122687906G rs2270231C122690803G rs2072438 T122691122C rs881375 T122692719C 88 325 245 0.3810.247 125 561 629 rs6478486 T122695150C 87 325 246 0.379 0.246 124 558631 rs1860824 G122699160T rs10760126 T122702439C rs4836834 TRAF1 3′UTRT122705722A 130 345 184 0.459 0.183 205 631 481 rs10435844 TRAF1intronic G122708020T rs2239657 TRAF1 P340P G122711341A 87 325 247 0.3790.246 125 557 635 rs12377786 TRAF1 intronic G122711580T rs2239658 TRAF1intronic T122711658C rs7021880 TRAF1 intronic C122713711G 77 306 2750.350 0.607 100 516 701 rs3747841 TRAF1 S170S A122715622G 0 14 645 0.0111 0 37 1279 rs2416804 TRAF1 intronic G122716217C rs2416805 TRAF1intronic T122716303C rs876445 TRAF1 intronic A122716923T rs10118357TRAF1 intronic G122719889A rs2269059 TRAF1 intronic A122722293T 4 90 5650.074 0.776 7 196 1114 rs2191959 TRAF1 intronic A122723655T rs7021049TRAF1 intronic G122723803T 133 342 184 0.461 0.273 204 630 483 rs7021206TRAF1 intronic G122723978A rs1014529 TRAF1 intronic C122724764Grs1930781 TRAF1 intronic G122727655A rs1930782 TRAF1 intronicC122727726T rs3761846 C122729418T rs2416806 G122730113C rs7864019A122732689T rs10760130 G122741811A rs10818488 A122744908G rs2900180T122746203C 88 325 244 0.381 0.247 126 558 633 rs10760131 G122749962T 019 634 0.015 1 1 56 1242 rs12004487 C5 intronic C122756502T 5 95 5580.080 0.595 8 220 1089 rs16910233 C5 intronic G122763432C 0 5 654 0.0041 0 21 1295 rs2269066 C5 intronic T122776839C 15 141 503 0.130 0.169 12209 1096 rs2269067 C5 intronic C122776861G 41 212 405 0.223 0.072 35 379903 rs2159776 C5 intronic C122795981T 134 333 191 0.457 0.638 261 642414 rs10760134 C5 intronic C122798246T rs7040033 C5 intronic A122798865G128 339 192 0.451 0.346 308 640 368 rs10760135 C5 intronic T122802827C132 332 194 0.453 0.694 261 637 418 rs17611 C5 I802V A122809021G 129 336196 0.4493 0.530 305 646 371 rs10818496 C5 intronic G122814284A 87 286286 0.349 0.265 184 612 521 rs10985126 C5 G385G C122823755T 34 198 4250.202 0.091 27 362 928 rs993247 C5 intronic G122825070A rs2416811 C5intronic T122829455C 128 335 196 0.448 0.529 302 642 373 rs10156396 C5intronic T122830953C rs10985132 C5 intronic T122835515C rs10818499 C5intronic A122839915T rs9644911 C5 intronic G122848925A 33 217 409 0.2150.563 64 446 807 rs10739585 C5 intronic G122849360C rs7871371T122855883C rs7855998 T122855917C rs7029523 T122857434C rs1924081A122862268T rs1323472 C122866156G 110 326 222 0.415 0.630 190 606 521rs7042135 T122876474C rs6478498 A122877723G rs7856420 G122878978Crs10739586 T122881893A rs6478499 A122882694G rs4837808 A122886441Grs12685539 CEP110 intronic G122896746T 0 20 639 0.015 1 0 25 1291rs10760146 CEP110 intronic T122896906C rs9299273 CEP110 intronicT122898251A rs9657673 CEP110 intronic T122900196C 124 328 207 0.4370.812 277 647 393 rs7022941 CEP110 intronic G122907291C rs1998506 CEP110intronic G122910284A rs4837809 CEP110 intronic T122913032G rs1407910CEP110 intronic T122915251C rs2146838 CEP110 intronic G122916126Ars1951784 CEP110 intronic G122916272A rs10818508 CEP110 intronicG122922855A rs10081760 CEP110 intronic A122924127G 56 297 305 0.3110.202 119 519 676 rs2900185 CEP110 intronic A122927191G rs4837811 CEP110intronic T122941415G rs2068055 CEP110 intronic T122943988A 15 146 4980.134 0.310 24 356 934 rs10760151 CEP110 intronic G122945183A rs7036541CEP110 intronic G122945456C rs12683062 CEP110 intronic T122946625G 19111 528 0.113 2.56E−04 11 236 1070 rs3747843 CEP110 intronic A122954127G164 337 158 0.505 0.586 321 640 355 rs3736855 CEP110 V1398V A122956841T129 325 205 0.442 1 256 611 370 rs10818512 CEP110 intronic A122957176Grs3736856 CEP110 intronic G122960384A 128 318 213 0.436 0.635 236 638443 rs2057466 CEP110 intronic T122966751C rs1535655 CEP110 intronicG122968390A rs2146836 CEP110 intronic A122970117C rs2302498 CEP110intronic A122976150T rs7047038 RAB14 intronic T122986768G rs10760152RAB14 intronic A122987806C 55 293 311 0.306 0.271 110 506 701 rs10760153RAB14 intronic C122988196T rs942152 RAB14 intronic C122991506T 133 322204 0.446 0.813 204 626 485 rs9408928 RAB14 intronic C122991738T 5 70583 0.061 0.084 7 112 1198 rs9409230 T123007581A 3 65 589 0.054 0.427 8101 1207 rs7030849 C123009655T 117 326 215 0.426 0.750 186 588 462rs747846 T123022431G 70 259 330 0.303 0.080 180 575 562 rs12343027T123027074C 2 50 606 0.041 0.298 3 113 1201 rs4837817 C123034984G 14 160485 0.143 0.873 35 347 935 rs4595204 T123056182A 1 58 599 0.046 1 0 1201197 rs10985196 GSN intronic A123072865C 46 217 396 0.234 0.039 35 363919 rs306781 GSN intronic C123082765T 0 31 628 0.024 1 0 65 1252rs11787991 GSN intronic T123086454G 2 41 616 0.034 0.171 1 76 1239rs7046030 GSN intronic C123087058T 40 209 408 0.220 0.068 34 342 942rs12683459 GSN intronic A123088119G 40 211 407 0.221 0.089 32 344 939rs11788156 GSN intronic C123111661G 2 57 600 0.046 0.644 2 100 1214rs4837839 GSN intronic T123111948C 136 303 220 0.436 0.096 263 641 412rs306783 GSN intronic T123112418C 142 294 223 0.439 0.018 249 612 455rs306784 GSN intronic T123112473G 104 292 262 0.380 0.137 178 595 544rs10818527 GSN intronic A123115075G 94 283 282 0.357 0.107 126 581 610rs16910509 GSN intronic T123123292C 14 128 516 0.119 0.090 25 350 942rs2304393 GSN G471G T123123435C 0 48 611 0.036 1 1 120 1195 rs12683989GSN intronic T123125867C 2 94 563 0.074 0.568 5 116 1196 rs1560980 GSNintronic C123133818G 3 47 609 0.040 0.081 3 103 1210 rs7039494 GSNintronic T123134411A 15 164 480 0.147 0.758 44 410 863 rs12340264 STOMintronic T123149742C 8 108 543 0.094 0.355 17 235 1064 rs12554081 STOMintronic A123165145C 18 150 491 0.141 0.145 34 381 902 rs17086 STOMintronic G123165341A rs10818531 STOM intronic T123168845C 1 48 609 0.0381 1 122 1194 rs367395 STOM intronic T123171333G 11 131 517 0.116 0.44525 340 949 Genotypic Marker MAF HW^(c) OR (95% CI) P^(d) P^(e)rs10984984 rs10760112 0.297 0.147 1.08 (0.94-1.25) 0.2866 0.507rs10985014 0.140 0.424 0.97 (0.80-1.18) 0.7527 0.944 rs7026635 0.2430.133 1.19 (1.03-1.38) 0.0197 0.065 rs1577001 0.021 1 1.15 (0.74-1.80)0.5377 0.412 rs7873274 0.103 0.550 1.15 (0.93-1.42) 0.1894 0.404rs10985044 rs10760117 0.394 0.273 1.12 (0.98-1.29) 0.0805 0.171rs10739575 0.152 0.285 1.18 (0.99-1.41) 0.0580 0.141 rs933003 0.021 11.14 (0.74-1.78) 0.5419 0.546 rs10985051 0.150 0.279 1.00 (0.83-1.20)0.9521 0.729 rs13291973 0.083 1 1.02 (0.80-1.30) 0.8704 0.672 rs18370.250 0.142 1.19 (1.02-1.38) 0.0216 0.067 rs1056567 0.296 0.146 1.23(1.07-1.42) 0.0028 0.009 rs10985070 rs1953126 0.308 1 1.35 (1.18-1.56)1.69E−05 7.83E−05 rs1930777 rs1609810 0.307 0.897 1.38 (1.20-1.59)4.21E−06 1.55E−05 rs10985073 rs7034390 rs10818482 rs2270231 rs2072438rs881375 0.308 1 1.38 (1.20-1.58) 4.78E−06 1.99E−05 rs6478486 0.307 11.38 (1.20-1.58) 4.83E−06 1.90E−05 rs1860824 rs10760126 rs4836834 0.3950.954 1.30 (1.14-1.48) 1.10E−04 3.26E−04 rs10435844 rs2239657 0.3060.846 1.38 (1.20-1.58) 4.86E−06 1.78E−05 rs12377786 rs2239658 rs70218800.272 0.728 1.44 (1.25-1.66) 5.09E−07 3.09E−06 rs3747841 0.014 1 0.75(0.41-1.40) 0.3640 0.359 rs2416804 rs2416805 rs876445 rs10118357rs2269059 0.080 0.850 0.93 (0.72-1.19) 0.5511 0.757 rs2191959 rs70210490.394 1 1.32 (1.15-1.50) 4.78E−05 1.79E−04 rs7021206 rs1014529 rs1930781rs1930782 rs3761846 rs2416806 rs7864019 rs10760130 rs10818488 rs29001800.308 0.846 1.39 (1.21-1.59) 3.21E−06 1.19E−05 rs10760131 0.022 0.4780.65 (0.38-1.09) 0.1003 0.286 rs12004487 0.090 0.498 0.88 (0.69-1.12)0.2981 0.410 rs16910233 0.008 1 0.47 (0.18-1.26) 0.1238 0.111 rs22690660.088 0.497 1.54 (1.25-1.89) 7.19E−05 4.63E−04 rs2269067 0.170 0.5601.40 (1.19-1.65) 7.10E−05 9.41E−05 rs2159776 0.442 0.696 1.06(0.93-1.21) 0.3790 0.547 rs10760134 rs7040033 0.477 0.377 0.90(0.79-1.03) 0.1269 0.127 rs10760135 0.440 0.538 1.05 (0.92-1.20) 0.45620.570 rs17611 0.475 0.473 0.90 (0.79-1.03) 0.1269 0.190 rs10818496 0.3720.860 0.90 (0.79-1.04) 0.1597 0.263 rs10985126 0.158 0.255 1.35(1.14-1.60) 5.15E−04 3.28E−04 rs993247 rs2416811 0.473 0.439 0.91(0.79-1.03) 0.1444 0.200 rs10156396 rs10985132 rs10818499 rs96449110.218 0.809 0.98 (0.84-1.15) 0.8186 0.915 rs10739585 rs7871371 rs7855998rs7029523 rs1924081 rs1323472 0.374 0.518 1.19 (1.04-1.36) 0.0140 0.036rs7042135 rs6478498 rs7856420 rs10739586 rs6478499 rs4837808 rs126855390.009 1 1.61 (0.89-2.90) 0.1109 0.121 rs10760146 rs9299273 rs96576730.456 0.739 0.93 (0.81-1.06) 0.2600 0.480 rs7022941 rs1998506 rs4837809rs1407910 rs2146838 rs1951784 rs10818508 rs10081760 0.288 0.179 1.11(0.96-1.29) 0.1413 0.056 rs2900185 rs4837811 rs2068055 0.154 0.167 0.85(0.70-1.03) 0.0887 0.052 rs10760151 rs7036541 rs12683062 0.098 0.7551.18 (0.95-1.46) 0.1463 0.003 rs3747843 0.487 0.348 1.07 (0.94-1.22)0.3029 0.343 rs3736855 0.454 0.909 0.95 (0.83-1.09) 0.4953 0.791rs10818512 rs3736856 0.421 0.821 1.06 (0.93-1.21) 0.4007 0.682 rs2057466rs1535655 rs2146836 rs2302498 rs7047038 rs10760152 0.276 0.168 1.16(1.00-1.34) 0.0490 0.029 rs10760153 rs942152 0.393 0.954 1.24(1.09-1.42) 0.0015 0.006 rs9408928 0.048 0.026 1.29 (0.97-1.72) 0.09490.261 rs9409230 0.044 0.003 1.23 (0.91-1.66) 0.1986 0.245 rs70308490.388 1 1.17 (1.02-1.34) 0.0259 0.082 rs747846 0.355 0.092 0.79(0.68-0.91) 0.0014 0.005 rs12343027 0.045 0.746 0.90 (0.65-1.26) 0.55140.734 rs4837817 0.158 0.679 0.88 (0.73-1.07) 0.1993 0.437 rs45952040.046 0.108 1.00 (0.73-1.37) 0.9616 0.420 rs10985196 0.164 1 1.56(1.32-1.83) 1.79E−07 4.93E−07 rs306781 0.025 1 0.95 (0.62-1.47) 0.82110.822 rs11787991 0.030 1 1.16 (0.80-1.68) 0.4460 0.494 rs7046030 0.1560.675 1.53 (1.29-1.81) 9.85E−07 5.14E−06 rs12683459 0.155 0.916 1.55(1.31-1.83) 4.86E−07 2.19E−06 rs11788156 0.040 1 1.18 (0.85-1.63) 0.31770.588 rs4837839 0.443 0.655 0.97 (0.85-1.11) 0.6753 0.505 rs306783 0.4220.090 1.07 (0.94-1.22) 0.3286 0.383 rs306784 0.361 0.473 1.08(0.95-1.24) 0.2536 0.390 rs10818527 0.316 0.484 1.20 (1.05-1.38) 0.01000.008 rs16910509 0.152 0.285 0.75 (0.62-0.92) 0.0045 0.002 rs23043930.046 0.523 0.78 (0.55-1.09) 0.1402 0.342 rs12683989 0.048 0.218 1.60(1.22-2.10) 7.02E−04 0.002 rs1560980 0.041 0.487 0.97 (0.69-1.36) 0.85900.622 rs7039494 0.189 0.653 0.74 (0.62-0.89) 0.0011 0.004 rs123402640.102 0.296 0.91 (0.73-1.14) 0.4284 0.708 rs12554081 0.170 0.437 0.80(0.66-0.96) 0.0181 0.013 rs17086 rs10818531 0.047 0.360 0.80 (0.57-1.12)0.1849 0.345 rs367395 0.148 0.445 0.75 (0.62-0.92) 0.0053 0.010^(a)Positions according to genomic conting NT_008470.18 (EntrezNucleotide). The minor allele is listed first, followed by the positionin National Center for Biotechnology Information Genome Build 36.2 andthen the major allele. ^(b)MAF is the minor allele frequency.^(c)Hardy-Weinberg equilibrium testing was accomplished through theexact test of Weir as described in the Materials and Methods.^(d)Calculated using Cochran-Armitage Trend test. ^(e)Calculated usingWilliam's-corrected G test.

TABLE 7 Minor allele frequencies and allele-based association of chr9q33 SNPs with RA - SAMPLE SET 3 (596 Cases/705 Controls) ControlPosition & Case Genotypes Genotypes Marker Gene Type Alleles^(a) 11 1222 MAF HW^(c) 11 12 22 rs10984984 MEGF9 intronic T122503297C rs10760112MEGF9 intronic C122507391T 57 247 284 0.307 0.771 71 283 346 rs10985014G122538111A rs7026635 FBXW2 intronic G122589848A 54 233 301 0.290 0.36845 268 387 rs1577001 LOC402377 intronic T122597128C rs7873274 LOC402377intronic C122599313T rs10985044 A122603331G rs10760117 PSMD5 intronicT122626558G 115 292 180 0.445 0.933 124 319 253 rs10739575 G122645922A21 170 399 0.180 0.577 23 189 488 rs933003 A122647650G 0 33 558 0.028 10 49 651 rs10985051 C122647701A rs13291973 T122654694G rs1837 PHF193′UTR T122658050C 54 239 296 0.295 0.553 45 271 383 rs1056567 PHF19S181S T122671866C 74 271 245 0.355 1 74 300 326 rs10985070 PHF19intronic C122675942A rs1953126 T122680321C 83 287 221 0.383 0.543 82 322293 rs1930777 A122680989G rs1609810 G122682172A 84 281 223 0.382 0.79482 320 297 rs10985073 T122683676C rs7034390 A122686309T rs10818482A122687906G rs2270231 C122690803G rs2072438 T122691122C rs881375T122692719C 86 278 223 0.383 1 85 320 294 rs6478486 T122695150C 85 276224 0.381 1 81 320 297 rs1860824 G122699160T rs10760126 T122702439Crs4836834 TRAF1 3′UTR T122705722A 137 301 151 0.488 0.621 136 332 232rs10435844 TRAF1 intronic G122708020T rs2239657 TRAF1 P340P G122711341A85 282 224 0.382 0.862 82 320 298 rs12377786 TRAF1 intronic G122711580Trs2239658 TRAF1 intronic T122711658C rs7021880 TRAF1 intronicC122713711G 78 274 238 0.364 1 79 309 312 rs3747841 TRAF1 S170SA122715622G rs2416804 TRAF1 intronic G122716217C rs2416805 TRAF1intronic T122716303C rs876445 TRAF1 intronic A122716923T rs10118357TRAF1 intronic G122719889A rs2269059 TRAF1 intronic A122722293Trs2191959 TRAF1 intronic A122723655T rs7021049 TRAF1 intronicG122723803T 138 299 154 0.486 0.805 137 331 232 rs7021206 TRAF1 intronicG122723978A rs1014529 TRAF1 intronic C122724764G rs1930781 TRAF1intronic G122727655A rs1930782 TRAF1 intronic C122727726T rs3761846C122729418T rs2416806 G122730113C rs7864019 A122732689T rs10760130G122741811A rs10818488 A122744908G rs2900180 T122746203C 88 283 2190.389 0.863 85 323 292 rs10760131 G122749962T rs12004487 C5 intronicC122756502T rs16910233 C5 intronic G122763432C rs2269066 C5 intronicT122776839C 10 115 465 0.114 0.314 7 141 552 rs2269067 C5 intronicC122776861G 33 215 343 0.238 1 25 231 444 rs2159776 C5 intronicC122795981T 134 285 170 0.469 0.508 133 375 192 rs10760134 C5 intronicC122798246T rs7040033 C5 intronic A122798865G 101 284 205 0.412 0.865139 350 209 rs10760135 C5 intronic T122802827C rs17611 C5 I802VA122809021G 102 275 209 0.409 0.494 145 341 213 rs10818496 C5 intronicG122814284A rs10985126 C5 G385G C122823755T 26 204 359 0.217 0.717 30205 465 rs993247 C5 intronic G122825070A rs2416811 C5 intronicT122829455C 101 279 210 0.408 0.610 138 351 211 rs10156396 C5 intronicT122830953C rs10985132 C5 intronic T122835515C rs10818499 C5 intronicA122839915T rs9644911 C5 intronic G122848925A rs10739585 C5 intronicG122849360C rs7871371 T122855883C rs7855998 T122855917C rs7029523T122857434C rs1924081 A122862268T rs1323472 C122866156G 122 292 1760.454 1 118 321 261 rs7042135 A122876474C rs6478498 A122877723Grs7856420 G122878978C rs10739586 T122881893A rs6478499 A122882694Grs4837808 A122886441G rs12685539 CEP110 intronic G122896746T rs10760146CEP110 intronic T122896906C rs9299273 CEP110 intronic T122898251Ars9657673 CEP110 intronic T122900196C 98 280 213 0.403 0.732 134 342 224rs7022941 CEP110 intronic G122907291C rs1998506 CEP110 intronicG122910284A rs4837809 CEP110 intronic T122913032G rs1407910 CEP110intronic T122915251C rs2146838 CEP110 intronic G122916126A rs1951784CEP110 intronic G122916272A rs10818508 CEP110 intronic G122922855Ars10081760 CEP110 intronic A122924127G 67 263 261 0.336 1 62 303 332rs2900185 CEP110 intronic A122927191G rs4837811 CEP110 intronicT122941415G rs2068055 CEP110 intronic T122943988A rs10760151 CEP110intronic G122945183A rs7036541 CEP110 intronic G122945456C rs12683062CEP110 intronic T122946625G 11 128 451 0.127 0.577 10 131 559 rs3747843CEP110 intronic A122954127G 170 281 139 0.526 0.283 180 342 178rs3736855 CEP110 V1398V A122956841T 102 276 212 0.407 0.444 140 340 220rs10818512 CEP110 intronic A122957176G rs3736856 CEP110 intronicG122960384A rs2057466 CEP110 intronic T122966751C rs1535655 CEP110intronic G122968390A rs2146836 CEP110 intronic A122970117C rs2302498CEP110 intronic A122976150T rs7047038 RAB14 intronic T122986768Grs10760152 RAB14 intronic A122987806C 63 259 269 0.326 1 51 307 342rs10760153 RAB14 intronic C122988196T rs942152 RAB14 intronicC122991506T 141 293 157 0.486 0.869 137 330 232 rs9408928 RAB14 intronicC122991738T 0 68 522 0.058 0.248 0 84 616 rs9409230 T123007581A 0 60 5300.051 0.390 1 70 629 rs7030849 C123009655T 129 287 173 0.463 0.620 130321 249 rs747846 T123022431G rs12343027 T123027074C rs4837817C123034984G rs4595204 T123056182A rs10985196 GSN intronic A123072865C 35205 351 0.233 0.490 32 239 429 rs306781 GSN intronic C123082765T 0 14577 0.012 1 1 11 688 rs11787991 GSN intronic T123086454G rs7046030 GSNintronic C123087058T 32 195 363 0.219 0.400 25 227 445 rs12683459 GSNintronic A123088119G 32 193 366 0.217 0.334 25 229 446 rs11788156 GSNintronic C123111661G rs4837839 GSN intronic T123111948C 114 263 2140.415 0.042 149 329 222 rs306783 GSN intronic T123112418C 131 276 1840.455 0.159 136 341 223 rs306784 GSN intronic T123112473G 98 270 2230.394 0.302 87 334 279 rs10818527 GSN intronic A123115075G 83 267 2410.366 0.535 81 320 299 rs16910509 GSN intronic T123123292C rs2304393 GSNG471G T123123435C rs12683989 GSN intronic T123125867C 2 67 522 0.060 1 083 614 rs1560980 GSN intronic C123133818G rs7039494 GSN intronicT123134411A rs12340264 STOM intronic T123149742C rs12554081 STOMintronic A123165145C rs17086 STOM intronic G123165341A rs10818531 STOMintronic T123168845C rs367395 STOM intronic T123171333G Genotypic MarkerMAF^(b) HW^(c) OR (95% CI) P^(d) P^(e) rs10984984 rs10760112 0.304 0.2461.02 (0.86-1.20) 0.8532 0.843 rs10985014 rs7026635 0.256 0.921 1.19(1.00-1.41) 0.0534 0.118 rs1577001 rs7873274 rs10985044 rs10760117 0.4070.182 1.16 (1.00-1.36) 0.0599 0.099 rs10739575 0.168 0.347 1.09(0.89-1.33) 0.4365 0.724 rs933003 0.035 1 0.79 (0.51-1.24) 0.2986 0.298rs10985051 rs13291973 rs1837 0.258 0.843 1.20 (1.01-1.43) 0.0402 0.101rs1056567 0.320 0.728 1.17 (0.99-1.38) 0.0612 0.165 rs10985070 rs19531260.349 0.677 1.16 (0.99-1.36) 0.0661 0.183 rs1930777 rs1609810 0.3460.802 1.17 (0.99-1.37) 0.0600 0.171 rs10985073 rs7034390 rs10818482rs2270231 rs2072438 rs881375 0.351 0.934 1.15 (0.98-1.35) 0.0849 0.227rs6478486 0.345 0.738 1.17 (0.99-1.37) 0.0585 0.162 rs1860824 rs10760126rs4836834 0.431 0.397 1.26 (1.08-1.47) 0.0042 0.010 rs10435844 rs22396570.346 0.803 1.17 (1.00-1.38) 0.0523 0.153 rs12377786 rs2239658 rs70218800.334 0.865 1.15 (0.97-1.35) 0.1020 0.259 rs3747841 rs2416804 rs2416805rs876445 rs10118357 rs2269059 rs2191959 rs7021049 0.432 0.355 1.24(1.07-1.45) 0.0062 0.016 rs7021206 rs1014529 rs1930781 rs1930782rs3761846 rs2416806 rs7864019 rs10760130 rs10818488 rs2900180 0.3520.804 1.17 (1.00-1.37) 0.0523 0.153 rs10760131 rs12004487 rs16910233rs2269066 0.111 0.701 1.04 (0.81-1.33) 0.7678 0.544 rs2269067 0.2010.555 1.24 (1.03-1.50) 0.0222 0.066 rs2159776 0.458 0.040 1.05(0.90-1.22) 0.5509 0.130 rs10760134 rs7040033 0.450 0.760 0.86(0.73-1.00) 0.0521 0.143 rs10760135 rs17611 0.451 0.703 0.84 (0.72-0.98)0.0316 0.096 rs10818496 rs10985126 0.189 0.219 1.19 (0.98-1.44) 0.07990.113 rs993247 rs2416811 0.448 0.760 0.85 (0.73-0.99) 0.0401 0.100rs10156396 rs10985132 rs10818499 rs9644911 rs10739585 rs7871371rs7855998 rs7029523 rs1924081 rs1323472 0.398 0.269 1.26 (1.08-1.47)0.0044 0.013 rs7042135 rs6478498 rs7856420 rs10739586 rs6478499rs4837808 rs12685539 rs10760146 rs9299273 rs9657673 0.436 0.878 0.87(0.75-1.02) 0.0924 0.240 rs7022941 rs1998506 rs4837809 rs1407910rs2146838 rs1951784 rs10818508 rs10081760 0.306 0.593 1.15 (0.97-1.35)0.1072 0.246 rs2900185 rs4837811 rs2068055 rs10760151 rs7036541rs12683062 0.108 0.433 1.20 (0.95-1.53) 0.1339 0.327 rs3747843 0.5010.546 1.10 (0.95-1.29) 0.2160 0.431 rs3736855 0.443 0.702 0.86(0.74-1.01) 0.0681 0.182 rs10818512 rs3736856 rs2057466 rs1535655rs2146836 rs2302498 rs7047038 rs10760152 0.292 0.121 1.17 (0.99-1.38)0.0681 0.088 rs10760153 rs942152 0.432 0.317 1.25 (1.07-1.45) 0.00640.021 rs9408928 0.060 0.166 0.96 (0.69-1.33) 0.7920 0.792 rs94092300.051 1 0.99 (0.70-1.40) 0.9379 0.612 rs7030849 0.415 0.140 1.21(1.04-1.42) 0.0173 0.048 rs747846 rs12343027 rs4837817 rs4595204rs10985196 0.216 0.912 1.10 (0.91-1.32) 0.3268 0.513 rs306781 0.0090.055 1.28 (0.60-2.73) 0.5371 0.404 rs11787991 rs7046030 0.199 0.6341.13 (0.94-1.37) 0.1970 0.258 rs12683459 0.199 0.555 1.12 (0.92-1.35)0.2590 0.272 rs11788156 rs4837839 0.448 0.194 0.88 (0.75-1.02) 0.10820.226 rs306783 0.438 0.818 1.07 (0.92-1.25) 0.3858 0.477 rs306784 0.3630.415 1.14 (0.97-1.34) 0.1018 0.106 rs10818527 0.344 0.802 1.10(0.94-1.29) 0.2448 0.399 rs16910509 rs2304393 rs12683989 0.060 0.1631.01 (0.73-1.40) 0.9442 0.241 rs1560980 rs7039494 rs12340264 rs12554081rs17086 rs10818531 rs367395 ^(a)Positions according to genomic contingNT_008470.18 (Entrez Nucleotide). The minor allele is listed first,followed by the position in National Center for BiotechnologyInformation Genome Build 36.2 and then the major allele. ^(b)MAF is theminor allele frequency. ^(c)Hardy-Weinberg equilibrium testing wasaccomplished through the exact test of Weir as described in theMaterials and Methods. ^(d)Calculated using Cochran-Armitage Trend test.^(e)Calculated using William's-corrected G test.

TABLE 8 Demographic and clinical information Sample Set Subphenotype1^(a) 2^(b) 3^(c) Genetic background White White White (North American)(North American) (Dutch) No. of cases 475 661 596 No. of controls 4751322 705 Female:male 314:161 536:125 362:196^(d) Average age of 46.97 ±11.83 38.61 ± 13.61 54.58^(e) ± 13.38 onset (years) % RF-positive 100%82% 72%^(f) ^(a)All 950 samples were genotyped for a single SNP,rs10818488, in the candidate gene study performed by Kurreeman et al[35]. ^(b)475 patient samples were included in the initial whole genomeassociation study performed by Plenge et al [34]. ^(c)436 patients and94 controls samples were included in the candidate gene study performedby Kurreeman et al [35]. ^(d)Information on gender was available for 558patients. ^(e)Information on age of onset was available for 306patients. ^(f)Information on RF status was available for 440 patients.

TABLE 9 Combined analysis of 43 chr 9q33.2 SNPs genotyped in all threeRA sample sets Combined Analysis OR_(common) Trend Genotypic Marker GeneType Position & Alleles^(a) (95% CI)^(b) P_(comb) ^(c) P_(comb) ^(c)rs10760112 MEGF9 intronic C122507391T 1.17 (1.02-1.23) 0.035 0.136rs7026635 FBXW2 intronic G122589848A 1.24 (1.10-1.35) 0.001 0.012rs10760117 PSMD5 intronic T122626558G 1.26 (1.10-1.31) 2.79E−04 0.003rs10739575 G122645922A 1.16 (1.03-1.30) 0.081 0.349 rs933003 A122647650G1.12 (0.79-1.40) 0.255 0.243 rs1837 PHF19 3′UTR T122658050C 1.28(1.12-1.36) 2.17E−04 0.002 rs1056567 PHF19 S181S T122671866C 1.25(1.12-1.35) 1.11E−04 0.002 rs1953126 T122680321C 1.28 (1.16-1.40)1.45E−06 4.24E−05 rs1609810 G122682172A 1.29 (1.19-1.42) 1.92E−075.24E−06 rs881375 T122692719C 1.27 (1.17-1.41) 4.69E−07 1.09E−05rs6478486 T122695150C 1.29 (1.19-1.42) 1.35E−07 3.75E−06 rs4836834 TRAF13′UTR T122705722A 1.32 (1.19-1.43) 8.13E−08 1.84E−06 rs2239657 TRAF1P340P G122711341A 1.29 (1.19-1.43) 1.49E−07 3.89E−06 rs7021880 TRAF1intronic C122713711G 1.33 (1.21-1.46) 5.41E−09 2.27E−07 rs7021049 TRAF1intronic G122723803T 1.32 (1.20-1.43) 4.09E−08 1.22E−06 rs2900180T122746203C 1.27 (1.18-1.41) 3.32E−07 7.62E−06 rs2269066 C5 intronicT122776839C 1.29 (1.14-1.53) 1.68E−04 0.001 rs2269067 C5 intronicC122776861G 1.27 (1.17-1.46) 1.71E−05 1.04E−04 rs2159776 C5 intronicC122795981T 1.11 (0.99-1.19) 0.190 0.135 rs7040033 C5 intronicA122798865G 0.86 (0.80-0.96) 0.018 0.060 rs17611 C5 I802V A122809021G0.84 (0.79-0.94) 0.006 0.040 rs10985126 C5 G385G C122823755T 1.20(1.11-1.39) 8.69E−04 0.001 rs2416811 C5 intronic T122829455C 0.85(0.79-0.95) 0.008 0.023 rs1323472 C122866156G 1.23 (1.12-1.34) 1.57E−047.06E−04 rs9657673 CEP110 intronic T122900196C 0.86 (0.81-0.96) 0.0190.052 rs10081760 CEP110 intronic A122924127G 1.15 (1.03-1.25) 0.0490.066 rs12683062 CEP110 intronic T122946625G 1.12 (1.00-1.33) 0.2090.029 rs3747843 CEP110 intronic A122954127G 1.13 (1.01-1.21) 0.108 0.304rs3736855 CEP110 V1398V A122956841T 0.87 (0.82-0.98) 0.048 0.191rs10760152 RAB14 intronic A122987806C 1.15 (1.05-1.27) 0.028 0.024rs942152 RAB14 intronic C122991506T 1.18 (1.11-1.32) 2.53E−04 0.002rs9408928 RAB14 intronic C122991738T 1.11 (0.93-1.38) 0.364 0.378rs9409230 T123007581A 1.14 (0.93-1.40) 0.499 0.217 rs7030849 C123009655T1.18 (1.08-1.29) 0.003 0.014 rs10985196 GSN intronic A123072865C 1.25(1.18-1.46) 6.33E−07 4.12E−06 rs306781 GSN intronic C123082765T 0.68(0.59-1.16) 0.119 0.284 rs7046030 GSN intronic C123087058T 1.26(1.18-1.47) 2.05E−06 1.99E−05 rs12683459 GSN intronic A123088119G 1.25(1.18-1.47) 1.36E−06 9.79E−06 rs4837839 GSN intronic T123111948C 0.85(0.82-0.97) 0.021 0.076 rs306783 GSN intronic T123112418C 1.11(1.00-1.19) 0.198 0.405 rs306784 GSN intronic T123112473G 1.15(1.03-1.24) 0.049 0.131 rs10818527 GSN intronic A123115075G 1.21(1.08-1.31) 0.001 0.004 rs12683989 GSN intronic T123125867C 1.17(1.05-1.50) 0.016 0.010 ^(a)Positions according to genomic contigNT_008470.18 (Entrez Nucleotide). The minor allele is listed first,followed by the position in National Center for BiotechnologyInformation Genome Build 36.2 and then the major allele. ^(b)Calculatedfor the minor allele using a Mantel-Haenszel common OR. ^(c)Calculatedusing Fisher's combined test.

TABLE 10 Three-SNP haplotypes for LD Block 1 Sample Set 1 Sample Set 2Global P = 6.00E−04^(a) Global P = 3.77E−05^(a) No. (Frequency) in No.(Frequency) in Haplotype^(c) Case Control P OR Case Control P OR AGT 507(0.539) 582 (0.619) 5.08E−04 0.72 708 (0.537) 1595 (0.605)  4.01E−050.76 GCG 326 (0.347) 253 (0.269) 2.13E−04 1.44 457 (0.347) 714 (0.271)8.71E−07 1.43 AGG  85 (0.090)  71 (0.075) 0.250 1.22 108 (0.082) 232(0.088) 0.540 0.93 GGG  22 (0.023)  32 (0.034) 0.168 0.68  41 (0.031) 92 (0.035) 0.539 0.89 Other 0  2 (0.002)  4 (0.003)  3 (0.001) SampleSet 3 Combined Global P = 0.033^(a) Global P_(comb) ^(b) = 1.81E−07 No.(Frequency) in OR_(common) Haplotype^(c) Case Control P OR P_(comb) ^(b)(95% CI)^(d) AGT 604 (0.512) 794 (0.567) 0.005 0.8 3.08E−08 0.76(0.70-0.83) GCG 425 (0.360) 465 (0.332) 0.133 1.13 8.00E−09 1.32(1.21-1.45) AGG 122 (0.103) 120 (0.086) 0.127 1.22 NC 1.09 (0.93-1.27)GGG  25 (0.021)  20 (0.014) 0.135 1.49 NC 0.93 (0.70-1.21) Other  5(0.004)  1 (0.001) ^(a)The Haplo.Stats package was used to test forassociation between haplotypes and disease status. ^(b)Calculated forhaplotypes with the same effect (risk or protection) in all three samplesets, with use of Fisher's combined test. ^(c)These haplotypes consistof the following SNPs: rs2239657, rs7021880, and rs7021049,respectively.

TABLE 11 Diplotype Analysis for the TRAF1-region SNPs rs2239657,rs7021880 and rs7021049 Sample Set 1 Sample Set 2 Global^(a) P = 0.0069Global^(a) P = 1.3E−04 No. (Frequency) in No. (Frequency) inDiplotype^(c) Case Control P^(d) OR Case Control P^(d) OR AGT/AGT 140(0.297)  180 (0.383)  0.006 0.68 183 (0.278)  482 (0.366) 8.21E−05 0.67AGT/Other 51 (0.108) 64 (0.136) 0.197 0.77 86 (0.131) 204 (0.155) 0.1570.82 AGT/GCG 178 (0.377)  158 (0.336)  0.197 1.20 255 (0.387)  426(0.324) 0.006 1.32 GCG/GCG 51 (0.108) 34 (0.072) 0.068 1.55 76 (0.115)100 (0.076) 0.004 1.59 GCG/Other 46 (0.098) 27 (0.057) 0.028 1.77 50(0.076)  87 (0.066) 0.452 1.16 Other/Other  6 (0.013)  7 (0.015) 0.7890.85  9 (0.014)  18 (0.014) 1.000 1.00 Sample Set 3 Combined AnalysisGlobal^(a) P = 0.058 Global^(b) P_(comb) = 8.22E−06 No. (Frequency) inOR_(common) ^(f) Diplotype^(c) Case Control P^(d) OR P_(comb) ^(e) (95%CI) AGT/AGT 153 (0.259)  232 (0.331)  0.005 0.7 5.35E−07 0.68(0.59-0.78) AGT/Other 81 (0.137) 73 (0.104) 0.085 1.36 NC 0.94(0.78-1.13) AGT/GCG 218 (0.369)  257 (0.367)  0.954 1.01 0.035 1.18(1.04-1.34) GCG/GCG 77 (0.130) 78 (0.111) 0.304 1.19 0.005 1.42(1.16-1.75) GCG/Other 54 (0.091) 52 (0.074) 0.309 1.25 0.086 1.32(1.04-1.66) Other/Other  8 (0.014)  8 (0.011) 0.804 1.19 NC 1.01(0.56-1.72) ^(a)Calculated using a Williams-corrected G test.^(b)Calculated using Fisher's combined test. ^(c)Allele 1 rs2239657 -allele 1 rs7021880 - allele 1 rs7021049/allele 2 rs2239657 - allele 2rs7021880 - allele 2 rs7021049. ^(d)P-values calculated using Fisher'sexact test. ^(e)Calculated for diplotypes with the same effect (risk orprotection) in all three sample sets, with use of Fisher's combinedtest. ^(f)Mantel-Haenszel common odds ratio with confidence intervalsfrom Monte Carlo simulation.

TABLE 12 Genotype counts of rs2239657, rs7021880 and rs7021049stratified by the presence of rheumatoid factor rs2239657 rs7021880Genotypes Genotypes GG GA AA MAF P^(a) OR_(Allelic) CC CG GG MAF P^(a)OR_(Allelic) Sample Set 1^(b) RF-positive cases 62 224 184 0.370 0.0081.35 (1.11- 1.63) 51 225 195 0.347 0.001 1.43 (1.17- 1.74) controls 45195 229 0.304 34 187 249 0.271 Sample Set 2 RF-positive cases 68 268 2060.373 5.60E−04 1.32 (1.14- 1.55) 62 250 229 0.346 2.39E−04 1.27 (1.08-1.49) matched controls 106 457 520 0.309 87 425 571 0.277 RF-negativecases 19 57 41 0.406 0.013 1.63 (1.18- 2.27) 15 56 46 0.368 0.005 1.74(1.24- 2.44) matched controls 19 100 115 0.295 13 91 130 0.250Breslow-Day^(c) 0.263 0.222 Sample Set 3 RF-positive cases 47 156 1110.398 0.07 1.25 (1.03- 1.52) 42 151 121 0.374 0.184 1.19 (0.98- 1.45)RF-negative cases 13 63 46 0.364 0.483 1.09 (0.82- 1.44) 12 63 47 0.3570.312 1.11 (0.83- 1.47) Controls 82 320 298 0.346 79 309 312 0.334 MonteCarlo^(d) 0.218 0.645 Combined RF-positive cases^(e) 4.02E−05 7.10E−06RF-negative cases^(f) 0.038 0.013 rs7021049 Genotypes GG GT TT MAF P^(a)OR_(Allelic) Sample Set 1^(b) RF-positive cases 103 229 140 0.461 0.0021.39 (1.16-1.67) controls 68 222 180 0.381 Sample Set 2 RF-positivecases 107 283 152 0.458 8.77E−04 1.30 (1.12-1.50) matched controls 175505 403 0.395 RF-negative cases 26 59 32 0.474 0.054 1.41 (1.02-1.93)matched controls 29 125 80 0.391 Breslow-Day^(c) 0.656 Sample Set 3RF-positive cases 73 164 77 0.494 0.019 1.28 (1.06-1.55) RF-negativecases 21 67 34 0.447 0.297 1.06 (0.81-1.39) Controls 137 331 232 0.432Monte Carlo^(d) 0.116 Combined RF-positive cases^(e) 5.68E−06RF-negative cases^(f) 0.082 ^(a)Genotypic P-values were calculatedexcept where indicated. ^(b)All cases in this study were RF-positive.^(c)Differental effects between RF-positive and RF-negative associationwere determined for sample set 2 using a Breslow-Day test (cases andcontrols were individually matched). ^(d)Differential effects betweenRF-positive and RF-negative association were determined for sample set 3using a Monte Carlo simulation (cases and controls were not individuallymatched). ^(e)Includes all three sample sets. ^(f)Includes sample sets 2and 3.

TABLE 13 Pairwise logistic regression analysis of the 27 chr9q33.2 SNPsP adjusted for r² with P adjusted for rs7021049 & Group^(a) Markerrs7021049^(b) P^(c) rs7021049 rs10985196 3 rs10760112 0.157 0.357 0.2850.770 4 rs10760117 0.329 0.011 0.760 0.579 5 rs10739575 0.086 0.0550.580 0.893 6 rs933003 0.011 0.757 0.420 0.448 7 rs1837, rs7026635 0.1510.002 0.169 0.126 8 rs1056567 0.243 5.22E−04 0.200 0.208 1 rs2239657,rs1953126, rs1609810, rs881375, rs6478486, rs2900180 0.685 2.52E−060.217 0.254 9 rs7021880 0.607 1.39E−06 0.104 0.072 2 rs7021049,rs4836834 1 1.24E−06 — — 10 rs2269066 0.114 0.002 0.115 0.094 11rs2269067 0.261 7.64E−06 0.023 0.175 12 rs2159776 0.143 0.291 0.3670.598 13 rs17611, rs7040033, rs2416811, rs9657673, rs3736855 0.328 0.0110.716 0.450 14 rs10985126 0.206 1.86E−04 0.103 0.992 15 rs1323472,rs7030849 0.585 1.99E−04 0.935 0.415 16 rs12683062 0.113 0.042 0.6960.327 17 rs3747843 0.337 0.112 0.123 0.059 18 rs10760152, rs100817600.297 0.007 0.933 0.790 19 rs942152 0.434 2.92E−05 0.161 0.919 20rs9408928, rs9409230 0.063 0.270 0.955 0.307 21 rs10985196, rs7046030,rs12683459 0.089 6.17E−06 0.001 — 22 rs306781 0.015 0.905 0.661 0.147 23rs4837839 0.079 0.171 0.988 0.667 24 rs306783 0 0.192 0.210 0.987 25rs306784 0.009 0.054 0.144 0.876 26 rs10818527 0.02 0.007 0.044 0.368 27rs12683989 0.019 0.009 0.054 0.573 ^(a)SNPs were grouped together iftheir pairwise r² values were >0.90. The first SNP in each group wasused for the analyses. With the exception of Groups 1 and 2, they arelisted in the order of appearance on the chromosome (for groups of SNPs,the position of the first SNP was used). ^(b)Pairwise LD betweenrs7021049 and each of the 27 other SNPs as measured by r² in the casesand controls of the combined analysis of all three sample sets.^(c)Univariate analysis using logistic regression.

TABLE 14 Global P-values for backwards and forwards models usinglogistic regression.^(a) Building Sample Tested Sample Sets Set ModelSNPs^(b) 1 2 3 Combined 1 Forward rs10760117 0.0022 0.135 0.165 1.31E−222 Forward rs7021880, rs12683062, rs10985196, rs4837839, rs12683989 0.0676.40E−10 0.419 7.38E−25 3 Forward rs2159776, rs1323472 0.051 0.0840.0048 1.08E−22 Combined Forward rs7021049, rs10985196 0.010 8.25E−080.089 1.15E−27 1 Backward rs10985126, rs2269066, rs10760152, rs306781,rs1323472, rs1837 1.25E−04 5.82E−04 0.077 7.89E−23 2 Backward Same Modelas Sample Set 2-Forward 0.067 6.40E−10 0.419 7.38E−25 3 Backwardrs2159776, rs3747843, rs2269066, rs2269067, rs1323472 0.0963 0.00180.0037 4.33E−24 Combined Backward rs10818527, rs3747843, rs7021880,rs2269067, rs1323472 0.023 1.43E−06 0.063 5.61E−28 ^(a)Calculated usingthe log likelihood ratio test. ^(b)SNPs included in each model.

TABLE 15 RA risk estimates for 3 loci - HLA-SE, PTPN22 and TRAF1 -assuming a disease prevalence of 1%, 10% and 30%. Disease PrevalenceLoci 1% 10% HLA^(a) PTPN22^(b) TRAF1^(c) P(MLG)^(d) P(RA|MLG)^(e) RR^(f)SRR^(g) P(MLG)^(d) P(RA|MLG)^(e) RR^(f) SRR^(g) 0SE CC AGT/AGT 0.1890.003 0.29 (0.21-0.38) 1.00 0.176 0.031 0.31 (0.23-0.40) 1.00 0SE CCOther 0.269 0.004 0.41 (0.33-0.50) 1.41 0.254 0.043 0.43 (0.35-0.52)1.39 0SE TT + TC AGT/AGT 0.039 0.005 0.50 (0.27-0.85) 1.73 0.037 0.0530.53 (0.29-0.86) 1.70 0SE CC GCG/GCG 0.036 0.006 0.56 (0.30-0.94) 1.920.034 0.058 0.58 (0.32-0.94) 1.87 0SE TT + TC Other 0.055 0.007 0.71(0.46-1.05) 2.44 0.054 0.073 0.73 (0.49-1.05) 2.35 0SE TT + TC GCG/GCG0.007 0.010 0.96 (0.69-1.16) 3.33 0.007 0.097 0.97 (0.71-1.14) 3.12 1SECC AGT/AGT 0.114 0.009 0.90 (0.29-3.26) 3.09 0.113 0.090 0.90(0.31-2.70) 2.92 1SE CC Other 0.162 0.013 1.26 (1.05-1.53) 4.35 0.1660.123 1.23 (1.04-1.46) 3.98 1SE TT + TC AGT/AGT 0.024 0.015 1.55(0.92-2.70) 5.34 0.025 0.147 1.47 (0.94-2.34) 4.76 1SE CC GCG/GCG 0.0220.017 1.71 (1.00-3.09) 5.92 0.023 0.161 1.61 (1.00-2.60) 5.20 1SE TT +TC Other 0.034 0.022 2.17 (1.48-3.37) 7.49 0.037 0.196 1.96 (1.41-2.77)6.33 1SE TT + TC GCG/GCG 0.005 0.029  2.94 (1.11-13.91) 10.15 0.0050.250 2.50 (1.10-6.40) 8.07 2SE CC AGT/AGT 0.014 0.043 4.29 (2.62-8.45)14.82 0.019 0.330 3.30 (2.26-5.04) 10.67 2SE CC Other 0.021 0.060  5.95(3.98-10.07) 20.55 0.030 0.410 4.10 (3.12-5.49) 13.26 2SE TT + TCAGT/AGT 0.003 0.072 7.23 (2.75-100)  24.95 0.005 0.462 4.62 (2.39-10)  14.90 2SE CC GCG/GCG 0.003 0.080 7.96 (2.94-100)  27.48 0.005 0.488 4.88(2.58-10)   15.74 2SE TT + TC Other 0.004 0.099  9.91 (4.62-34.44) 34.200.008 0.547 5.47 (3.47-8.57) 17.68 2SE TT + TC GCG/GCG 0.0006 0.13113.06 (NC)^(h)     45.10 0.001 0.623 6.23 (NC)^(h)    20.12 DiseasePrevalence Loci 30% HLA^(a) PTPN22^(b) TRAF1^(c) PTPN22^(b) TRAF1^(c)P(MLG)^(d) P(RA|MLG)^(e) RR^(f) SRR^(g) 0SE CC AGT/AGT CC AGT/AGT 0.1490.110 0.37 (0.27-0.46) 1.00 0SE CC Other CC Other 0.222 0.148 0.49(0.41-0.59) 1.35 0SE TT + TC AGT/AGT TT + TC AGT/AGT 0.033 0.176 0.59(0.34-0.89) 1.61 0SE CC GCG/GCG CC GCG/GCG 0.031 0.192 0.64 (0.38-0.97)1.75 0SE TT + TC Other TT + TC Other 0.051 0.232 0.77 (0.55-1.04) 2.110SE TT + TC GCG/GCG TT + TC GCG/GCG 0.007 0.292 0.97 (0.36-1.96) 2.661SE CC AGT/AGT CC AGT/AGT 0.110 0.277 0.92 (0.76-1.11) 2.53 1SE CC OtherCC Other 0.175 0.351 1.17 (1.03-1.32) 3.20 1SE TT + TC AGT/AGT TT + TCAGT/AGT 0.027 0.400 1.33 (0.95-1.80) 3.65 1SE CC GCG/GCG CC GCG/GCG0.026 0.425 1.42 (1.00-1.91) 3.88 1SE TT + TC Other TT + TC Other 0.0450.485 1.62 (1.30-1.99) 4.42 1SE TT + TC GCG/GCG TT + TC GCG/GCG 0.0070.563 1.88 (1.07-2.93) 5.13 2SE CC AGT/AGT CC AGT/AGT 0.028 0.656 2.19(1.76-2.65) 5.97 2SE CC Other CC Other 0.051 0.729 2.43 (2.12-2.75) 6.642SE TT + TC AGT/AGT TT + TC AGT/AGT 0.009 0.768 2.56 (1.83-3.33) 7.002SE CC GCG/GCG CC GCG/GCG 0.009 0.786 2.62 (1.91-3.33) 7.16 2SE TT + TCOther TT + TC Other 0.016 0.824 2.75 (2.25-3.19) 7.50 2SE TT + TCGCG/GCG TT + TC GCG/GCG 0.003 0.864 2.88 (NC)^(h)    7.88 ^(a)The numberof copies of the HLA-DRB1 shared epitope (SE). SE⁺ HLA-DRB1 allelesinclude: 0101, 0102, 0401, 0404, 0405, 0408 and 1001. ^(b)The PTPN22R620W genotype (CC indicates homozygosity for the protective R620allele; TT + TC indicates carriage of the risk W620 allele). ^(c)TheTRAF1 diplotype (allele 1 rs2239657- allele 1 rs7021880 - allele 1rs7021049/allele 2 rs2239657 - allele 2 rs7021880 - allele 2 rs7021049).^(d)Probability of the indicated 3-locus genotype. ^(e)Probability of RAgiven the indicated 3-locus genotype. ^(f)Relative risk and 95%confidence intervals from Monte Carlo simulations using 10,000replicates. ^(g)Standardized relative risk estimates setting the lowestvalue in each group to one. ^(h)95% CIs were not calculated due to smallcounts.

TABLE 16 HapMap SNPs in high LD (r² > 0.85) with rs7021049 andrs2239657. a. rs7021049^(a) r² with SNP rs7021049 Position^(b) Regionrs10985070 0.967 122675942 PHF19 rs10985073 0.967 122683676 PHF19-TRAF1intergenic rs10818482 0.967 122687906 PHF19-TRAF1 intergenic rs20724380.967 122691122 PHF19-TRAF1 intergenic rs10760126 1 122702439PHF19-TRAF1 intergenic rs4836834 1 122705722 TRAF1 rs2416804 0.967122716217 TRAF1 rs10118357 1 122719889 TRAF1 rs2269060 1 122723390 TRAF1rs7037195 1 122723821 TRAF1 rs1014530 1 122724913 TRAF1 rs3761846 1122729418 TRAF1-C5 intergenic rs3761847 0.967 122730060 TRAF1-C5intergenic rs10760129 1 122740004 TRAF1-C5 intergenic rs10760130 1122741811 TRAF1-C5 intergenic rs10818488 1 122744908 TRAF1-C5 intergenicb. rs2239657 r² with SNP rs2239657 Position^(b) Region rs1953126 0.934122680321 5′ PHF19 rs1930778 0.96 122681190 PHF19-TRAF1 intergenicrs1609810 0.961 122682172 PHF19-TRAF1 intergenic rs7034390 0.934122686309 PHF19-TRAF1 intergenic rs10760121 0.934 122687736 PHF19-TRAF1intergenic rs2270231 0.934 122690803 PHF19-TRAF1 intergenic rs8813750.934 122692719 PHF19-TRAF1 intergenic rs6478486 0.934 122695150PHF19-TRAF1 intergenic rs1468671 0.966 122697323 PHF19-TRAF1 intergenicrs1860824 0.965 122699160 PHF19-TRAF1 intergenic rs7046108 0.966122700160 PHF19-TRAF1 intergenic rs10435843 0.966 122707854 TRAF1rs10435844 0.966 122708020 TRAF1 rs2239658 0.966 122711658 TRAF1rs7021880 0.894 122713711 TRAF1 rs2416805 0.966 122716303 TRAF1 rs7589590.966 122716520 TRAF1 rs876445 0.966 122716923 TRAF1 rs2109895 0.966122717648 TRAF1 rs7021206 0.965 122723978 TRAF1 rs1014529 0.966122724764 TRAF1 rs1930780 0.966 122726040 TRAF1 rs1930781 0.966122727655 TRAF1 rs2416806 0.966 122730113 TRAF1-C5 intergenic rs78640190.966 122732689 TRAF1-C5 intergenic rs10739580 0.966 122735103 TRAF1-C5intergenic rs10733648 0.966 122740600 TRAF1-C5 intergenic rs48378040.863 122745125 TRAF1-C5 intergenic rs7039505 1 122745766 TRAF1-C5intergenic rs2900180 0.962 122746203 TRAF1-C5 intergenic ^(a)rs1930782at position 122727726, which was genotyped in this study but not in theHapMap, is in strong LD with rs7021049 (r² > 0.95). ^(b)Positionsaccording to genomic conting NT_008470.18 (Entrez Nucleotide).

Gene Number: 1 Gene Symbol C5 - 727 Gene Name: complement component 5Transcript Accession: NM_001735 Protein Accession: NP_001726 Chromosome:9 OMIM NUMBER: 120900 OMIM Information: C5 deficiency (1)Transcript Sequence (SEQ ID NO: 1): Protein Sequence (SEQ ID NO: 17):SNP Information Context (SEQ ID NO: 33):CAAACTGAATTTGGTTGCTACTCCTCTTTTCCTGAAGCCTGGGATTCCATATCCCATCAAGGTGCAGGTTAAAGATTCGCTTGACCAGTTGGTAGGAGGARTCCCAGTAACACTGAATGCACAAACAATTGATGTAAACCAAGAGACATCTGACTTGGATCCAAGCAAAAGTGTAACACGTGTTGATGATGGAGTAGCTTCCelera SNP ID: hCV25473087 Public SNP ID: rs10985126SNP Chromosome Position: 122823755 SNP in Transcript SequenceSEQ ID NO: 1 SNP Position Transcript: 1186 SNP Source: AppleraPopulation(Allele,Count):Gaucasian (G,1|A,33) African American (G,9|A,25) total (G,10|A,58)SNP Type: ESE Protein Coding: SEQ ID NO: 17, at position NoneSNP Source: dbSNP; Applera Population(Allele,Count):Gaucasian (A,87|G,29) SNP Type: ESE Protein Coding:SEQ ID NO: 17, at position None Context (SEQ ID NO: 34):TTTCCAGAAAGCTGGTTGTGGGAAGTTCATCTTGTTCCCAGAAGAAAACAGTTGCAGTTTGCCCTACCTGATTCTCTAACCACCTGGGAAATTCAAGGCGRTGGCATTTCAAACACTGGTATATGTGTTGCTGATACTGTCAAGGCAAAGGTGTTCAAAGATGTCTTCCTGGAAATGAATATACCATATTCTGTTGTACGACelera SNP ID: hCV11720402 Public SNP ID: rs17611SNP Chromosome Position: 122809021 SNP in Transcript SequenceSEQ ID NO: 1 SNP Position Transcript: 2435 SNP Source:dbSNP; HapMap; ABI_Val Population(Allele,Count): Gaucasian (G,76|A,44)SNP Type: Missense Mutation Protein Coding:SEQ ID NO: 17, at position 802,(V,GTT) (I,ATT) Context (SEQ ID NO: 35):CTTTGGCACGAGGGAGAAATTTTCAGATGCATCTTATCAAAGTATAAACATTCCAGTAACACAGAACATGGTTCCTTCATCCCGACTTCTGGTCTATTACYTCGTCACAGGAGAACAGACAGCAGAATTAGTGTCTGATTCAGTCTGGTTAAATATTGAAGAAAAATGTGGCAACCAGCTCCAGGTTCATCTGTCTCCTGACelera SNP ID: hCV2359571 Public SNP ID: rs25681SNP Chromosome Position: 122819826 SNP in Transcript SequenceSEQ ID NO: 1 SNP Position Transcript: 1663 Related Interrogated SNP:hCV11720383 (Power=.51) Related Interrogated SNP:hCV11720402 (Power=.51) Related Interrogated SNP:hCV11720413 (Power=.51) Related Interrogated SNP:hCV16234785 (Power=.51) Related Interrogated SNP:hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)Related Interrogated SNP: hCV2783582 (Power=.51)Related Interrogated SNP: hCV2783608 (Power=.51)Related Interrogated SNP: hCV2783625 (Power=.51)Related Interrogated SNP: hCV2783633 (Power=.51)Related Interrogated SNP: hCV2783638 (Power=.51)Related Interrogated SNP: hCV29005933 (Power=.51)Related Interrogated SNP: hCV29824827 (Power=.51)Related Interrogated SNP: hCV30167357 (Power=.51)Related Interrogated SNP: hCV30830506 (Power=.51)Related Interrogated SNP: hCV30830539 (Power=.51)Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: AppleraPopulation(Allele,Count):Caucasian (T,13|C,19) Tfrican Tmerican (T,9|C,29) total (T,22|C,48)SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 17, at position 544,(Y,TAC) (Y,TAT) SNP Source: AppleraPopulation(Allele,Count):Caucasian (T,14|C,22) Tfrican Tmerican (T,9|C,29) total (T,23|C,51)SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 17, at position 544,(Y,TAC) (Y,TAT) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (C,76|T,44) SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 17, at position 544,(Y,TAC) (Y,TAT) Context (SEQ ID NO: 36):CCACTACAGAGGCTACGGAAACTCTGATTACAAACGCATAGTAGCATGTGCCAGCTACAAGCCCAGCAGGGAAGAATCATCATCTGGATCCTCTCATGCGRTGATGGACATCTCCTTGCCTACTGGAATCAGTGCAAATGAAGAAGACTTAAAAGCCCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAACelera SNP ID: hCV25613570 Public SNP ID: rs12237774SNP Chromosome Position: 122765792 SNP in Transcript SequenceSEQ ID NO: 1 SNP Position Transcript: 4297 Related Interrogated SNP:hCV25763321 (Power=.51) SNP Source: Applera Population(Allele,Count):Gaucasian (G,39|A,1) African American (G,34|A,4) total (G,73|A,5)SNP Type: Silent Rare Codon Protein Coding:SEQ ID NO: 17, at position 1422,(A,GCG) (A,GCA) SNP Source:dbSNP; HapMap Population(Allele,Count): Gaucasian (G,118|A,2) SNP Type:Silent Rare Codon Protein Coding:SEQ ID NO: 17, at position 1422,(A,GCG) (A,GCA) Gene Number: 2Gene Symbol CEP110 - 11064 Gene Name: centrosomal protein 110kDaTranscript Accession: NM_007018 Protein Accession: NP_008949 Chromosome:9 OMIM NUMBER: 605496 OMIM Information:Transcript Sequence (SEQ ID NO: 2): Protein Sequence (SEQ ID NO: 18):SNP Information Context (SEQ ID NO: 37):TCTTTTGCAAGAGAAGAAAAGCTTAGAGTGTGAAGTAGAAGAATTACATAGAACTGTCCAGAAACGTCAACAGCAAAAGGACTTCATTGATGGAAATGTTWAGAGTCTTATGACTGAACTAGAAATAGAAAAATCACTCAAACATCATGAAGATATTGTAGATGAAATTGAGTGCATTGAGAAGACTCTTCTGAAACGTCGCelera SNP ID: hCV3045800 Public SNP ID: rs3736855SNP Chromosome Position: 122956841 SNP in Transcript SequenceSEQ ID NO: 2 SNP Position Transcript: 4226 SNP Source:dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (T,76|A,44) SNP Type: ESS Protein Coding:SEQ ID NO: 18, at position None Context (SEQ ID NO: 38):ATCCCATCATCTATGTCCAATATGAGATCTAGGTCACTTTCACCTTTGATTGGATCAGAGACTCTACCTTTTCATTCTGGAGGACAGTGGTGTGAGCAAGKTGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGAGCTGATTCACATGCAGGAGTTAGATATATTACAGAGGCCCTCATTAAACelera SNP ID: hCV25965958 Public SNP ID: rs10985153SNP Chromosome Position: 122898384 SNP in Transcript SequenceSEQ ID NO: 2 SNP Position Transcript: 198 Related Interrogated SNP:hCV25763321 (Power=.51) SNP Source: Applera Population(Allele,Count):Caucasian (G,0|T,36) African American (G,5|T,29) total (G,5|T,65)SNP Type: TFBS synonymous Protein Coding:SEQ ID NO: 18, at position None SNP Source: dbSNP; HapMapPopulation(Allele,Count): Caucasian (T,115|G,1) SNP Type:TFBS synonymous Protein Coding: SEQ ID NO: 18, at position NoneContext (SEQ ID NO: 39):ATATTCCAGTATGGTTAGGGAAGAAGTTAAAATCTTTGCGAGTCCTCAATTTGAAAGGCAACAAGATATCATCGCTCCAAGATATAAGCAAGTTGAAACCYCTTCAAGATTTGATTTCTCTGATCCTAGTTGAAAATCCAGTTGTGACCCTTCCTCATTACCTCCAGTTTACCATTTTCCACCTCCGTTCATTGGAAAGTTCelera SNP ID: hCV25968825 Public SNP ID: rs10818504SNP Chromosome Position: 122900510 SNP in Transcript SequenceSEQ ID NO: 2 SNP Position Transcript: 679 Related Interrogated SNP:hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51)Related Interrogated SNP: hCV11720402 (Power=.51)Related Interrogated SNP: hCV30167357 (Power=.51)Related Interrogated SNP: hCV30830506 (Power=.51)Related Interrogated SNP: hCV7577337 (Power=.51)Related Interrogated SNP: hCV30830539 (Power=.51)Related Interrogated SNP: hCV3045797 (Power=.51)Related Interrogated SNP: hCV16234785 (Power=.51)Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: AppleraPopulation(Allele,Count):Caucasian (C,22|T,16) African American (C,27|T,11) total (C,49|T,27)SNP Type: Missense Mutation Protein Coding:SEQ ID NO: 18, at position 216,(P,CCG) (L,CTG) SNP Source: dbSNP; HapMapPopulation(Allele,Count): Caucasian (C,76|T,44) SNP Type:Missense Mutation Protein Coding:SEQ ID NO: 18, at position 216,(P,CCG) (L,CTG) Context (SEQ ID NO: 40):ATCCCATCATCTATGTCCAATATGAGATCTAGGTCACTTTCACCTTTGATTGGATCAGAGACTCTACCTTTTCATTCTGGAGGACAGTGGTGTGAGCAAGRTGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGAGCTGATTCACATGCAGGAGTTAGATATATTACAGAGGCCCTCATTAAACelera SNP ID: hCV25969661 Public SNP ID: rs10818503SNP Chromosome Position: 122890591 SNP in Transcript SequenceSEQ ID NO: 2 SNP Position Transcript: 198 Related Interrogated SNP:hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51)Related Interrogated SNP: hCV2783590 (Power=.51) SNP Source: AppleraPopulation(Allele,Count):Caucasian (A,28|G,12) African American (A,11|G,25) total (A,39|G,37)SNP Type: Missense Mutation Protein Coding:SEQ ID NO: 18, at position 56,(V,GTT) (I,ATT) SNP Source:dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,50|A,70)SNP Type: Missense Mutation Protein Coding:SEQ ID NO: 18, at position 56,(V,GTT) (I,ATT) Context (SEQ ID NO: 41):CTACCTTTTCATTCTGGAGGACAGTGGTGTGAGCAAGTTGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGAGCTGATTCACKTGCAGGAGTTAGATATATTACAGAGGCCCTCATTAAAAAACTTACTAAACAGGATAATTTGGCTTTGATAAAATCTCTGAACCTTTCACTTTCTAAAGACCelera SNP ID: hCV30830458 Public SNP ID: rs10733651SNP Chromosome Position: 122898015 SNP in Transcript SequenceSEQ ID NO: 2 SNP Position Transcript: 261 Related Interrogated SNP:hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51)Related Interrogated SNP: hCV2783590 (Power=.51) SNP Source:dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|T,70) SNP Type:Transcription Factor Binding Site Protein Coding:SEQ ID NO: 18, at position None Gene Number: 3 Gene Symbol GSN - 2934Gene Name: gelsolin (amyloidosis, Finnish type) Transcript Accession:NM_000177 Protein Accession: NP_000168 Chromosome: 9 OMIM NUMBER: 137350OMIM Information: Amyloidosis, Finnish type, 105120 (3)Transcript Sequence (SEQ ID NO: 3): Protein Sequence (SEQ ID NO: 19):SNP Information Context (SEQ ID NO: 42):CATGGATGACGATGGCACAGGCCAGAAACAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTGCCACATATGGACAGTTCTATGGAGGCYACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGCAGGGTGCCCAGTCTACCCAGGATGAGGTCGCTGCCelera SNP ID: hCV15974495 Public SNP ID: rs2304393SNP Chromosome Position: 123123435 SNP in Transcript SequenceSEQ ID NO: 3 SNP Position Transcript: 1475 SNP Source: AppleraPopulation(Allele,Count):Caucasian (C,37|T,1) African American (C,33|T,3) total (C,70|T,4)SNP Type: Silent Rare Codon Protein Coding:SEQ ID NO: 19, at position 471,(G,GGC) (G,GGT) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (C,115|T,5) SNP Type: Silent Rare Codon Protein Coding:SEQ ID NO: 19, at position 471,(G,GGC) (G,GGT) Context (SEQ ID NO: 43):GTGGAGAAGTTCGATCTGGTGCCCGTGCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACAGTGCAGCTGAGGAACGYAAATCTGCAGTATGACCTCCACTACTGGCTGGGCAATGAGTGCAGCCAGGATGAGAGCGGGGCGGCCGCCATCTTTACCGTGCAGCTGGATGACTACCTGCelera SNP ID: hCV7577193 Public SNP ID: rs913763SNP Chromosome Position: 123107610 SNP in Transcript SequenceSEQ ID NO: 3 SNP Position Transcript: 378 Related Interrogated SNP:hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (C,68|T,52) SNP Type:Transcription Factor Binding Site Protein Coding:SEQ ID NO: 19, at position None Gene Number: 3 Gene Symbol GSN - 2934Gene Name: gelsolin (amyloidosis, Finnish type) Transcript Accession:NM_198252 Protein Accession: NP_937895 Chromosome: 9 OMIM NUMBER: 137350OMIM Information: Amyloidosis, Finnish type, 105120 (3)Transcript Sequence (SEQ ID NO: 4): Protein Sequence (SEQ ID NO: 20):SNP Information Context (SEQ ID NO: 44):CATGGATGACGATGGCACAGGCCAGAAACAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTGCCACATATGGACAGTTCTATGGAGGCYACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGCAGGGTGCCCAGTCTACCCAGGATGAGGTCGCTGCCelera SNP ID: hCV15974495 Public SNP ID: rs2304393SNP Chromosome Position: 123123435 SNP in Transcript SequenceSEQ ID NO: 4 SNP Position Transcript: 1481 SNP Source: AppleraPopulation(Allele,Count):Caucasian (C,37|T,1) African American (C,33|T,3) total (C,70|T,4)SNP Type: Silent Rare Codon Protein Coding:SEQ ID NO: 20, at position 420,(G,GGC) (G,GGT) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (C,115|T,5) SNP Type: Silent Rare Codon Protein Coding:SEQ ID NO: 20, at position 420,(G,GGC) (G,GGT) Context (SEQ ID NO: 45):TGCAGCCAGGATGAGAGCGGGGCGGCCGCCATCTTTACCGTGCAGCTGGATGACTACCTGAACGGCCGGGCCGTGCAGCACCGTGAGGTCCAGGGCTTCGYGTCGGCCACCTTCCTAGGCTACTTCAAGTCTGGCCTGAAGTACAAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCelera SNP ID: hCV11840647 Public SNP ID: rs10985194SNP Chromosome Position: 123067533 SNP in Transcript SequenceSEQ ID NO: 4 SNP Position Transcript: 525 Related Interrogated SNP:hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMapPopulation(Allele,Count): Caucasian (C,68|T,52) SNP Type:Transcription Factor Binding Site Protein Coding:SEQ ID NO: 20, at position None Context (SEQ ID NO: 46):CGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCTGGGCCCCAAGCCGGCTCTGCCTGCAGGTWCCGAGGACACCGCCAAGGAGGATGCGGCCAACCGCAAGCTGGCCAAGCTCTACAAGGTCTCCAATGGTGCAGGGACCATGTCCGTCTCCCTCGTGGCTGACelera SNP ID: hCV28010799 Public SNP ID: rs4240466SNP Chromosome Position: 123079555 SNP in Transcript SequenceSEQ ID NO: 4 SNP Position Transcript: 917 Related Interrogated SNP:hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (A,66|T,52) SNP Type:Transcription Factor Binding Site Protein Coding:SEQ ID NO: 20, at position None Context (SEQ ID NO: 47):AGCATGGTGGTGGAACACCCCGAGTTCCTCAAGGCAGGGAAGGAGCCTGGCCTGCAGATCTGGCGTGTGGAGAAGTTCGATCTGGTGCCCGTGCCCACCAMCCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACAGTGCAGCTGAGGAACGGAAATCTGCAGTATGACCTCCACTACTGGCTGGGCCelera SNP ID: hCV30830609 Public SNP ID: rs4837826SNP Chromosome Position: 123063950 SNP in Transcript SequenceSEQ ID NO: 4 SNP Position Transcript: 318 Related Interrogated SNP:hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (C,68|A,52) SNP Type:TFBS synonymous Protein Coding: SEQ ID NO: 20, at position NoneGene Number: 4 Gene Symbol LOC392387 - 392387 Gene Name:similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) Transcript Accession: hCT19715 Protein Accession: hCP43992Chromosome: 9 OMIM NUMBER: OMIM Information:Transcript Sequence (SEQ ID NO: 5): Protein Sequence (SEQ ID NO: 21):SNP Information Context (SEQ ID NO: 48):CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGRCACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGCelera SNP ID: hCV26144244 Public SNP ID: rs4837792SNP Chromosome Position: 122523380 SNP in Transcript SequenceSEQ ID NO: 5 SNP Position Transcript: 609 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count):Caucasian (G,41|A,79) SNP Type: UTR3 Context (SEQ ID NO: 49):TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGACACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGRTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCGTAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCCelera SNP ID: hCV26144245 Public SNP ID: rs4837793SNP Chromosome Position: 122523442 SNP in Transcript SequenceSEQ ID NO: 5 SNP Position Transcript: 671 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count):Caucasian (G,41|A,79) SNP Type: UTR3 Context (SEQ ID NO: 50):GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCRTAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGACGAGGCCTGTCAGGAGGGCAACATCTTCelera SNP ID: hCV26144246 Public SNP ID: rs4836830SNP Chromosome Position: 122523489 SNP in Transcript SequenceSEQ ID NO: 5 SNP Position Transcript: 718 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (A,41|G,79) SNP Type: UTR3Gene Number: 4 Gene Symbol LOC392387 - 392387 Gene Name:similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) Transcript Accession: hCT2316704 Protein Accession:hCP1796196 Chromosome: 9 OMIM NUMBER: OMIM Information:Transcript Sequence (SEQ ID NO: 6): Protein Sequence (SEQ ID NO: 22):SNP Information Context (SEQ ID NO: 51):CAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGARACCAAGTGGACCGTGATGGTGCAGATTGCGCTGTGGACCCACCCAGACAAGTACCCCATTGGGGTTCACTTCCTGCCCAAGAAGCTGGATGAGGCAGTGGCelera SNP ID: hCV26144244 Public SNP ID: rs4837792SNP Chromosome Position: 122523380 SNP in Transcript SequenceSEQ ID NO: 6 SNP Position Transcript: 382 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count):Caucasian (G,41|A,79) SNP Type: Missense Mutation Protein Coding:SEQ ID NO: 22, at position 22,(D,GAC) (G,GGC) Context (SEQ ID NO: 52):CAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGARACCAAGTGGACCGTGATGGTGCAGATTGCGCTGTGGACCCACCCAGACAAGTACCCCATTGGGGTTCACTTCCTGCCCAAGAAGCTGGATGAGGCAGTGGCelera SNP ID: hCV26144245 Public SNP ID: rs4837793SNP Chromosome Position: 122523442 SNP in Transcript SequenceSEQ ID NO: 6 SNP Position Transcript: 382 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count):Caucasian (G,41|A,79) SNP Type: TFBS synonymous Protein Coding:SEQ ID NO: 22, at position None Gene Number: 4 Gene SymbolLOC392387 - 392387 Gene Name:similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) Transcript Accession: hCT2316705 Protein Accession:hCP1796197 Chromosome: 9 OMIM NUMBER: OMIM Information:Transcript Sequence (SEQ ID NO: 7): Protein Sequence (SEQ ID NO: 23):SNP Information Context (SEQ ID NO: 53):ACCCGTGGTGCATTGAACAGACACTGTACTTCAAGGACGGGCCCCTCAACATGATTCTGGATGATGGGGGTGACCTTACCAACCTCATCCACACCAAATGRCACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGCelera SNP ID: hCV26144244 Public SNP ID: rs4837792SNP Chromosome Position: 122523380 SNP in Transcript SequenceSEQ ID NO: 7 SNP Position Transcript: 309 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count):Caucasian (G,41|A,79) SNP Type: UTR5 Context (SEQ ID NO: 54):ATGGGGGTGACCTTACCAACCTCATCCACACCAAATGACACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGARGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCGTAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTCelera SNP ID: hCV26144245 Public SNP ID: rs4837793SNP Chromosome Position: 122523442 SNP in Transcript SequenceSEQ ID NO: 7 SNP Position Transcript: 372 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count):Caucasian (G,41|A,79) SNP Type: Missense Mutation Protein Coding:SEQ ID NO: 23, at position 14,(D,GAT) (G,GGT) Context (SEQ ID NO: 55):GACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGATGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCGRAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGACGAGGCCTGTCAGGAGGGCAACATCTTTCelera SNP ID: hCV26144246 Public SNP ID: rs4836830SNP Chromosome Position: 122523489 SNP in Transcript SequenceSEQ ID NO: 7 SNP Position Transcript: 419 Related Interrogated SNP:hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (A,41|G,79) SNP Type:Missense Mutation Protein Coding:SEQ ID NO: 23, at position 30,(V,GTA) (I,ATA) Gene Number: 5 Gene SymbolMEGF9 - 1955 Gene Name: multiple EGF-like-domains 9Transcript Accession: NM_001080497 Protein Accession: NP_001073966Chromosome: 9 OMIM NUMBER: 604268 OMIM Information:Transcript Sequence (SEQ ID NO: 8): Protein Sequence (SEQ ID NO: 24):SNP Information Context (SEQ ID NO: 56):CGGCCCCTCGCCGACCACCCCTCCGGCGGCGGAACGCACTTCGACCACCTCTCAGGCGCCGACCAGACCCGCGCCGACCACCCTTTCGACGACCACTGGCSCGGCGCCGACCACCCCTGTAGCGACCACCGTACCGGCGCCCACGACTCCCCGGACCCCGACCCCCGATCTCCCCAGCAGCAGCAACAGCAGCGTCCTCCCCelera SNP ID: hCV3121984 Public SNP ID: rs991121SNP Chromosome Position: 122410166 SNP in Transcript SequenceSEQ ID NO: 8 SNP Position Transcript: 436 Related Interrogated SNP:hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6)SNP Source: Applera Population(Allele,Count):Gaucasian (G,15|C,23) African American (G,26|C,12) total (G,41|C,35)SNP Type: Transcription Factor Binding Site Protein Coding:SEQ ID NO: 24 SNP Source: dbSNP; Celera; HapMap; HGBASEPopulation(Allele,Count): Gaucasian (C,43|G,75) SNP Type:Transcription Factor Binding Site Protein Coding: SEQ ID NO: 24Context (SEQ ID NO: 57):TCCTACACTTTTTAGGATGCTTGGTGAACATAACACCACTTATAATGAACATCCCTGGTTCCTATATTTTGGGCTATGTGGGTAGGAATTGTTACTTGTTRCTGCAGCAGCAGCCCTAGAAAGTAAGCCCAGGGCTTCAGATCTAAGTTAGTCCAAAAGCTAAATGATTTAAAGTCAAGTTGTAATGCTAGGCATAAGCACCelera SNP ID: hCV3121987 Public SNP ID: rs10616SNP Chromosome Position: 122403354 SNP in Transcript SequenceSEQ ID NO: 8 SNP Position Transcript: 5855 Related Interrogated SNP:hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51)SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Gaucasian (A,41|G,79) SNP Type: UTR3Gene Number: 6 Gene Symbol PHF19 - 26147 Gene Name:PHD finger protein 19 Transcript Accession: NM_001009936Protein Accession: NP_001009936 Chromosome: 9 OMIM NUMBER:OMIM Information: Transcript Sequence (SEQ ID NO: 9):Protein Sequence (SEQ ID NO: 25): SNP InformationContext (SEQ ID NO: 58):CATCTTCGCACTGGCTGTGCGGGTGAGCCTTCCATCCTCCCCAGTCCCTGCCTCTCCTGCCTCCTCCAGTGGGGCAGACCAGAGACTCCCATCACAGAGTYTGAGCTCCAAGCAGAAGGGCCACACCTGGGCTTTGGAGACAGATAGCGCCTCTGCCACTGTCCTTGGCCAGGATTTGTAGACTCCCTGAGCCTCAGTTTCCelera SNP ID: hCV8780517 Public SNP ID: rs1056567SNP Chromosome Position: 122671866 SNP in Transcript SequenceSEQ ID NO: 9 SNP Position Transcript: 797 SNP Source: dbSNP; HapMapPopulation(Allele,Count): Caucasian (T,43|C,77) SNP Type: ESEProtein Coding: SEQ ID NO: 25 Gene Number: 6 Gene Symbol PHF19 - 26147Gene Name: PHD finger protein 19 Transcript Accession: NM_015651Protein Accession: NP_056466 Chromosome: 9 OMIM NUMBER:OMIM Information: Transcript Sequence (SEQ ID NO: 10):Protein Sequence (SEQ ID NO: 26): SNP InformationContext (SEQ ID NO: 59):GATCCAATTTGTAGCTTCCTGCCTGGCTTCAGAGAGCCCAGCAACCTTCTAGGCCTGCTTTCCAGACTTCTGAGATAGCCTGGGATGAGCAATCCTGTTAYAGTACATCTGGACCTTCCCTACCTGGGCTCTGGGGAGGCTGTGGGCCTGGAGAGGGAAAAGGAGGGAGGGGGTGTCTGCACCACCTGGGAAGATAGCACACelera SNP ID: hCV8780962 Public SNP ID: rs1837 SNP Chromosome Position:122658050 SNP in Transcript Sequence SEQ ID NO: 10SNP Position Transcript: 3989 SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (T,39|C,81) SNP Type: UTR3Context (SEQ ID NO: 60):AAGCACAGGGGACTCACCCTCTTTCATATCCCTTGCCCTGCCCTGAAATGGACAATCACTTTTTGGGATAGGTTGAAATTTTTAAAGAGCCTGCATCATTYGGTTCCCTCAAAGGGAAGCCCTTGCCAGTGGGGGTTTGAAAGAGAATTTTTGGAACCAACATTCAAATTCTGCCTCATCTGGAGGGAAACCAAAATTGGGCelera SNP ID: hCV8780961 Public SNP ID: rs914842SNP Chromosome Position: 122658792 SNP in Transcript SequenceSEQ ID NO: 10 SNP Position Transcript: 3247 Related Interrogated SNP:hCV8780962 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51)Related Interrogated SNP: hCV25612709 (Power=.51)Related Interrogated SNP: hCV8780517 (Power=.51) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (T,30|C,90) SNP Type: UTR3 Gene Number: 7 Gene SymbolPSMD5 - 5711 Gene Name:proteasome (prosome, macropain) 26S subunit, non-ATPase, 5Transcript Accession: NM_005047 Protein Accession: NP_005038 Chromosome:9 OMIM NUMBER: 604452 OMIM Information:Transcript Sequence (SEQ ID NO: 11): Protein Sequence (SEQ ID NO: 27):SNP Information Context (SEQ ID NO: 61):TTTGGATGCAATTTCATCTCTTCTGTACTTACCACCTGAGCAGCAGACTGATGACCTTCTGAGGATGACAGAATCCTGGTTTTCTTCTTTATCTCGGGATYCACTGGAGCTCTTCCGTGGCATTAGTAGTCAGCCCTTCCCTGAACTACACTGTGCTGCCTTAAAAGTGTTTACGGCCATTGCAAACCAACCCTGGGCTCACelera SNP ID: hCV1452652 Public SNP ID: rs1060817SNP Chromosome Position: 122623013 SNP in Transcript SequenceSEQ ID NO: 11 SNP Position Transcript: 1202 Related Interrogated SNP:hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51)Related Interrogated SNP: hCV25751916 (Power=.51)Related Interrogated SNP: hCV2783604 (Power=.51)Related Interrogated SNP: hCV2783633 (Power=.51)Related Interrogated SNP: hCV8780962 (Power=.51)Related Interrogated SNP: hCV2783625 (Power=.51)Related Interrogated SNP: hCV2783582 (Power=.51)Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: AppleraPopulation(Allele,Count):Caucasian (T,16|C,16) Tfrican Tmerican (T,22|C,12) total (T,38|C,28)SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 27, at position 394,(D,GAT) (D,GAC) SNP Source: AppleraPopulation(Allele,Count):Caucasian (T,6|C,16) Tfrican Tmerican (T,18|C,12) total (T,24|C,28)SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 27, at position 394,(D,GAT) (D,GAC) SNP Source:dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (T,57|C,63) SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 27, at position 394,(D,GAT) (D,GAC) Gene Number: 8Gene Symbol RAB14 - 51552 Gene Name: RAB14, member RAS oncogene familyTranscript Accession: hCT1951175 Protein Accession: hCP1752444Chromosome: 9 OMIM NUMBER: OMIM Information:Transcript Sequence (SEQ ID NO: 12): Protein Sequence (SEQ ID NO: 28):SNP Information Context (SEQ ID NO: 62):ACATGCGTGTGCCAGACACCGGGCAGTACACTTTGGAAAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTYGAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCCTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGACelera SNP ID: hCV11720348 Public SNP ID: rs2057470SNP Chromosome Position: 122980943 SNP in Transcript SequenceSEQ ID NO: 12 SNP Position Transcript: 3372 Related Interrogated SNP:hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (T,45|C,73) SNP Type: UTR3Context (SEQ ID NO: 63):AAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTCGAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCYTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGAAGTCTTTTTTATGGATAATAACGTGTTTGATGGAGTACelera SNP ID: hCV11720350 Public SNP ID: rs2057469SNP Chromosome Position: 122980906 SNP in Transcript SequenceSEQ ID NO: 12 SNP Position Transcript: 3409 Related Interrogated SNP:hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)Related Interrogated SNP: hCV11720414 (Power=.51)Related Interrogated SNP: hCV1761894 (Power=.51)Related Interrogated SNP: hCV2783586 (Power=.51)Related Interrogated SNP: hCV2783634 (Power=.51)Related Interrogated SNP: hCV29005978 (Power=.51)Related Interrogated SNP: hCV30830725 (Power=.51)Related Interrogated SNP: hCV7577344 (Power=.51)Related Interrogated SNP: hCV29006006 (Power=.51)Related Interrogated SNP: hCV2783641 (Power=.51)Related Interrogated SNP: hCV2783621 (Power=.51)Related Interrogated SNP: hCV2783590 (Power=.51)Related Interrogated SNP: hCV2783597 (Power=.51)Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source:dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP Type:UTR3 Context (SEQ ID NO: 64):AGCTTCATACATTACCTCCCTTCTCAAATTCGGTAAGACAGTAGTTTTGGGGAACTTTTTTGCCCATGTGTCTTTTAAGTGTGATTTTAAAAAAATGAGTSGTTCAGTTCATTCCCCTAAACAGAAGAAAAGACCAAATAATTACCTTCCATTCCTCTTCATGTGGGAATATAGAGAGGGTTCATGTGGCATTTTAGAGAACelera SNP ID: hCV11720351 Public SNP ID: rs1885995SNP Chromosome Position: 122980617 SNP in Transcript SequenceSEQ ID NO: 12 SNP Position Transcript: 3698 Related Interrogated SNP:hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6)Related Interrogated SNP: hCV16234795 (Power=.6)Related Interrogated SNP: hCV25751916 (Power=.6)Related Interrogated SNP: hCV2783582 (Power=.6)Related Interrogated SNP: hCV2783604 (Power=.6)Related Interrogated SNP: hCV2783655 (Power=.6)Related Interrogated SNP: hCV30830638 (Power=.6)Related Interrogated SNP: hCV2783608 (Power=.6)Related Interrogated SNP: hCV2783625 (Power=.6)Related Interrogated SNP: hCV2783633 (Power=.6)Related Interrogated SNP: hCV2783638 (Power=.6)Related Interrogated SNP: hCV2783653 (Power=.51)Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Gaucasian (G,65|C,55) SNP Type: UTR3 Gene Number: 8 Gene SymbolRAB14 - 51552 Gene Name: RAB14, member RAS oncogene familyTranscript Accession: hCT21503 Protein Accession: hCP44842 Chromosome: 9OMIM NUMBER: OMIM Information: Transcript Sequence (SEQ ID NO: 13):Protein Sequence (SEQ ID NO: 29): SNP InformationContext (SEQ ID NO: 65):ACATGCGTGTGCCAGACACCGGGCAGTACACTTTGGAAAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTYGAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCCTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGACelera SNP ID: hCV11720348 Public SNP ID: rs2057470SNP Chromosome Position: 122980943 SNP in Transcript SequenceSEQ ID NO: 13 SNP Position Transcript: 3637 Related Interrogated SNP:hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (T,45|C,73) SNP Type: UTR3Context (SEQ ID NO: 66):AAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTCGAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCYTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGAAGTCTTTTTTATGGATAATAACGTGTTTGATGGAGTACelera SNP ID: hCV11720350 Public SNP ID: rs2057469SNP Chromosome Position: 122980906 SNP in Transcript SequenceSEQ ID NO: 13 SNP Position Transcript: 3674 Related Interrogated SNP:hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)Related Interrogated SNP: hCV11720414 (Power=.51)Related Interrogated SNP: hCV1761894 (Power=.51)Related Interrogated SNP: hCV2783586 (Power=.51)Related Interrogated SNP: hCV2783634 (Power=.51)Related Interrogated SNP: hCV29005978 (Power=.51)Related Interrogated SNP: hCV30830725 (Power=.51)Related Interrogated SNP: hCV7577344 (Power=.51)Related Interrogated SNP: hCV29006006 (Power=.51)Related Interrogated SNP: hCV2783641 (Power=.51)Related Interrogated SNP: hCV2783621 (Power=.51)Related Interrogated SNP: hCV2783590 (Power=.51)Related Interrogated SNP: hCV2783597 (Power=.51)Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source:dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP Type:UTR3 Context (SEQ ID NO: 67):AGCTTCATACATTACCTCCCTTCTCAAATTCGGTAAGACAGTAGTTTTGGGGAACTTTTTTGCCCATGTGTCTTTTAAGTGTGATTTTAAAAAAATGAGTSGTTCAGTTCATTCCCCTAAACAGAAGAAAAGACCAAATAATTACCTTCCATTCCTCTTCATGTGGGAATATAGAGAGGGTTCATGTGGCATTTTAGAGAACelera SNP ID: hCV11720351 Public SNP ID: rs1885995SNP Chromosome Position: 122980617 SNP in Transcript SequenceSEQ ID NO: 13 SNP Position Transcript: 3963 Related Interrogated SNP:hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6)Related Interrogated SNP: hCV16234795 (Power=.6)Related Interrogated SNP: hCV25751916 (Power=.6)Related Interrogated SNP: hCV2783582 (Power=.6)Related Interrogated SNP: hCV2783604 (Power=.6)Related Interrogated SNP: hCV2783655 (Power=.6)Related Interrogated SNP: hCV30830638 (Power=.6)Related Interrogated SNP: hCV2783608 (Power=.6)Related Interrogated SNP: hCV2783625 (Power=.6)Related Interrogated SNP: hCV2783633 (Power=.6)Related Interrogated SNP: hCV2783638 (Power=.6)Related Interrogated SNP: hCV2783653 (Power=.51)Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Gaucasian (G,65|C,55) SNP Type: UTR3 Gene Number: 8 Gene SymbolRAB14 - 51552 Gene Name: RAB14, member RAS oncogene familyTranscript Accession: hCT2317300 Protein Accession: hCP1796163Chromosome: 9 OMIM NUMBER: OMIM Information:Transcript Sequence (SEQ ID NO: 14): Protein Sequence (SEQ ID NO: 30):SNP Information Context (SEQ ID NO: 68):ACATGCGTGTGCCAGACACCGGGCAGTACACTTTGGAAAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTYGAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCCTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGACelera SNP ID: hCV11720348 Public SNP ID: rs2057470SNP Chromosome Position: 122980943 SNP in Transcript SequenceSEQ ID NO: 14 SNP Position Transcript: 3459 Related Interrogated SNP:hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASEPopulation(Allele,Count): Caucasian (T,45|C,73) SNP Type: UTR3Context (SEQ ID NO: 69):AAGAATGTGAAATCCTTTTAATTTTTAATCCATAGCTTACTGCTTGTGCAGTCACCTGCCTCTCGAGGTTGCTCATTGCCCTTGGACCTGTGAGGAGGCCYTCAGATTAGTAATTGGTGCTTAGTACTATTTATGCTTAAATAGATCTTCCACTACAATGTTGAAGTCTTTTTTATGGATAATAACGTGTTTGATGGAGTACelera SNP ID: hCV11720350 Public SNP ID: rs2057469SNP Chromosome Position: 122980906 SNP in Transcript SequenceSEQ ID NO: 14 SNP Position Transcript: 3496 Related Interrogated SNP:hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51)Related Interrogated SNP: hCV11720414 (Power=.51)Related Interrogated SNP: hCV1761894 (Power=.51)Related Interrogated SNP: hCV2783586 (Power=.51)Related Interrogated SNP: hCV2783634 (Power=.51)Related Interrogated SNP: hCV29005978 (Power=.51)Related Interrogated SNP: hCV30830725 (Power=.51)Related Interrogated SNP: hCV7577344 (Power=.51)Related Interrogated SNP: hCV29006006 (Power=.51)Related Interrogated SNP: hCV2783641 (Power=.51)Related Interrogated SNP: hCV2783621 (Power=.51)Related Interrogated SNP: hCV2783590 (Power=.51)Related Interrogated SNP: hCV2783597 (Power=.51)Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source:dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|C,72) SNP Type:UTR3 Context (SEQ ID NO: 70):AGCTTCATACATTACCTCCCTTCTCAAATTCGGTAAGACAGTAGTTTTGGGGAACTTTTTTGCCCATGTGTCTTTTAAGTGTGATTTTAAAAAAATGAGTSGTTCAGTTCATTCCCCTAAACAGAAGAAAAGACCAAATAATTACCTTCCATTCCTCTTCATGTGGGAATATAGAGAGGGTTCATGTGGCATTTTAGAGAACelera SNP ID: hCV11720351 Public SNP ID: rs1885995SNP Chromosome Position: 122980617 SNP in Transcript SequenceSEQ ID NO: 14 SNP Position Transcript: 3785 Related Interrogated SNP:hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6)Related Interrogated SNP: hCV16234795 (Power=.6)Related Interrogated SNP: hCV25751916 (Power=.6)Related Interrogated SNP: hCV2783582 (Power=.6)Related Interrogated SNP: hCV2783604 (Power=.6)Related Interrogated SNP: hCV2783655 (Power=.6)Related Interrogated SNP: hCV30830638 (Power=.6)Related Interrogated SNP: hCV2783608 (Power=.6)Related Interrogated SNP: hCV2783625 (Power=.6)Related Interrogated SNP: hCV2783633 (Power=.6)Related Interrogated SNP: hCV2783638 (Power=.6)Related Interrogated SNP: hCV2783653 (Power=.51)Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Gaucasian (G,65|C,55) SNP Type: UTR3 Gene Number: 9 Gene SymbolTRAF1 - 7185 Gene Name: TNF receptor-associated factor 1Transcript Accession: NM_005658 Protein Accession: NP_005649 Chromosome:9 OMIM NUMBER: 601711 OMIM Information:Transcript Sequence (SEQ ID NO: 15): Protein Sequence (SEQ ID NO: 31):SNP Information Context (SEQ ID NO: 71):GCCCATGGCCCTGGAGCAGAACCTGTCAGACCTGCAGCTGCAGGCAGCCGTGGAAGTGGCGGGGGACCTGGAGGTCGATTGCTACCGGGCACCCTGCTCCYAGAGCCAGGAGGAGCTGGCCCTGCAGCACTTCATGAAGGAGAAGCTTCTGGCTGAGCTGGAGGGGAAGCTGCGTGTGTTTGAGAACATTGTTGCTGTCCTCelera SNP ID: hCV25763321 Public SNP ID: rs3747841SNP Chromosome Position: 122715622 SNP in Transcript SequenceSEQ ID NO: 15 SNP Position Transcript: 1083 SNP Source: AppleraPopulation(Allele,Count):Caucasian (T,1|C,37) Tfrican Tmerican (T,3|C,35) total (T,4|C,72)SNP Type: ESE Protein Coding: SEQ ID NO: 31, at position NoneSNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (C,114|T,2) SNP Type: ESE Protein Coding:SEQ ID NO: 31, at position None Context (SEQ ID NO: 72):CCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGGAAGCCCACAGTCTGTGCAAGAGCATGAGGTCACCTCCCRGACCTCCCACCTAAACCTGCTGTTGGGGTTCATGAAACAGTGGAAGGCCCGGCTGGGCTGTGGCCTGGAGTCTGGGCCCATGGCCCTGGAGCAGAACCTGCelera SNP ID: hCV2783590 Public SNP ID: rs6478486SNP Chromosome Position: 122695150 SNP in Transcript SequenceSEQ ID NO: 15 SNP Position Transcript: 907 SNP Source:dbSNP; Celera; HapMap Population(Allele,Count): Gaucasian (A,52|G,68)SNP Type: Transcription Factor Binding Site Protein Coding:SEQ ID NO: 31, at position None Context (SEQ ID NO: 73):GCCAGGACTCCACAAGGCTGGTCCCCTGCCCTGGAGCAACTTAAACAGGCCCTCTGGCCAGCCTGGAACCCTGAGATGGCCTCCAGCTCAGGCAGCAGTCWTCGCCCGGCCCCTGATGAGAATGAGTTTCCCTTTGGGTGCCCTCCCACCGTCTGCCAGGACCCAAAGGAGCCCAGGGCTCTCTGCTGTGCAGGCTGTCTCCelera SNP ID: hCV2783608 Public SNP ID: rs4836834SNP Chromosome Position: 122705722 SNP in Transcript SequenceSEQ ID NO: 15 SNP Position Transcript: 598 SNP Source:dbSNP; Celera; HapMap; HGBASE Population(Allele,Count):Caucasian (A,63|T,57) SNP Type: Transcription Factor Binding SiteProtein Coding: SEQ ID NO: 31, at position None Context (SEQ ID NO: 74):GCGGCTGTACCTGAATGGAGATGGCACTGGAAAGAGAACCCATCTGTCGCTCTTCATCGTGATCATGAGAGGGGAGTATGATGCGCTGCTGCCGTGGCCCYTCCGGAACAAGGTCACCTTCATGCTGCTGGACCAGAACAACCGTGAGCACGCCATTGACGCCTTCCGGCCTGACCTAAGCTCAGCGTCCTTCCAGAGGCCCelera SNP ID: hCV16175379 Public SNP ID: rs2239657SNP Chromosome Position: 122711341 SNP in Transcript SequenceSEQ ID NO: 15 SNP Position Transcript: 1593 SNP Source:dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count):Caucasian (C,50|T,70) SNP Type: Silent Mutation Protein Coding:SEQ ID NO: 31, at position 340,(P,CCC) (P,CCT) Context (SEQ ID NO: 75):TGCACTCTGGACTCAAGAAACTCTTAGTTCAGTGGAGGAAATGAGCAGATAAGTAGATCATTATGATTGAGAGTAGGAGAAGCTTAGAGAAAGCACAGAAYCCCAGATCCAGCTGGTGAAGGAGGGAAGGCTTCAGGCCTTTAAGCTCAGCCTGAGAATATTGTGAAATGCAGAGGATGGGGAAAAGGGAAGAGTACCGACCelera SNP ID: hCV2783607 Public SNP ID: rs9886724SNP Chromosome Position: 122704840 SNP in Transcript SequenceSEQ ID NO: 15 SNP Position Transcript: 4102 Related Interrogated SNP:hCV11720413 (Power=.9) Related Interrogated SNP: hCV15870898 (Power=.9)Related Interrogated SNP: hCV16234795 (Power=.9)Related Interrogated SNP: hCV2783582 (Power=.9)Related Interrogated SNP: hCV25751916 (Power=.9)Related Interrogated SNP: hCV2783608 (Power=.9)Related Interrogated SNP: hCV2783625 (Power=.9)Related Interrogated SNP: hCV2783638 (Power=.9)Related Interrogated SNP: hCV2783655 (Power=.9)Related Interrogated SNP: hCV30830638 (Power=.9)Related Interrogated SNP: hCV2783633 (Power=.9)Related Interrogated SNP: hCV2783604 (Power=.9)Related Interrogated SNP: hCV2783620 (Power=.8)Related Interrogated SNP: hCV2783653 (Power=.8)Related Interrogated SNP: hCV11266229 (Power=.7)Related Interrogated SNP: hCV2783590 (Power=.7)Related Interrogated SNP: hCV11720414 (Power=.7)Related Interrogated SNP: hCV2783597 (Power=.7)Related Interrogated SNP: hCV7577344 (Power=.7)Related Interrogated SNP: hCV30830725 (Power=.7)Related Interrogated SNP: hCV29006006 (Power=.7)Related Interrogated SNP: hCV29005978 (Power=.7)Related Interrogated SNP: hCV2783634 (Power=.7)Related Interrogated SNP: hCV2783621 (Power=.7)Related Interrogated SNP: hCV2783618 (Power=.7)Related Interrogated SNP: hCV16175379 (Power=.6)Related Interrogated SNP: hCV1761888 (Power=.6)Related Interrogated SNP: hCV2783641 (Power=.6)Related Interrogated SNP: hCV1761894 (Power=.6)Related Interrogated SNP: hCV2783586 (Power=.6)Related Interrogated SNP: hCV2783589 (Power=.6)Related Interrogated SNP: hCV22272588 (Power=.6)Related Interrogated SNP: hCV15849116 (Power=.51) SNP Source:dbSNP; Celera Population(Allele,Count): Caucasian (T,60|C,54) SNP Type:UTR3 Context (SEQ ID NO: 76):TTCTCCAGGGTCAGAAACAGGACCGGGTGGAAGGGATGGGGTGCCAGTTTGAATGCAGTCTGTCCAGGCTCGTCATTGGAGGTGAACAAGCAAACCCAGASGGCTCCACTAGGACTTCAAATTGGGGGTTGGATTTGAAGACTTTTAAGTTTCCTTCCAGCCCAGAAAGTCTCTCATTCTAGGCCTCCTGGCCCAGGTGAGCelera SNP ID: hCV2783609 Public SNP ID: rs2241003SNP Chromosome Position: 122706598 SNP in Transcript SequenceSEQ ID NO: 15 SNP Position Transcript: 2344 Related Interrogated SNP:hCV2783620 (Power=.9) Related Interrogated SNP: hCV11266229 (Power=.8)Related Interrogated SNP: hCV11720413 (Power=.8)Related Interrogated SNP: hCV11720414 (Power=.8)Related Interrogated SNP: hCV16175379 (Power=.8)Related Interrogated SNP: hCV16234795 (Power=.8)Related Interrogated SNP: hCV1761894 (Power=.8)Related Interrogated SNP: hCV2783582 (Power=.8)Related Interrogated SNP: hCV2783586 (Power=.8)Related Interrogated SNP: hCV2783597 (Power=.8)Related Interrogated SNP: hCV2783641 (Power=.8)Related Interrogated SNP: hCV2783638 (Power=.8)Related Interrogated SNP: hCV2783634 (Power=.8)Related Interrogated SNP: hCV2783633 (Power=.8)Related Interrogated SNP: hCV2783625 (Power=.8)Related Interrogated SNP: hCV2783621 (Power=.8)Related Interrogated SNP: hCV2783618 (Power=.8)Related Interrogated SNP: hCV2783608 (Power=.8)Related Interrogated SNP: hCV2783604 (Power=.8)Related Interrogated SNP: hCV7577344 (Power=.8)Related Interrogated SNP: hCV30830725 (Power=.8)Related Interrogated SNP: hCV29006006 (Power=.8)Related Interrogated SNP: hCV29005978 (Power=.8)Related Interrogated SNP: hCV2783590 (Power=.8)Related Interrogated SNP: hCV25751916 (Power=.8)Related Interrogated SNP: hCV15849116 (Power=.7)Related Interrogated SNP: hCV1761888 (Power=.7)Related Interrogated SNP: hCV30830638 (Power=.7)Related Interrogated SNP: hCV2783655 (Power=.7)Related Interrogated SNP: hCV2783653 (Power=.7)Related Interrogated SNP: hCV2783589 (Power=.7)Related Interrogated SNP: hCV15870898 (Power=.7)Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source:dbSNP; Celera; HGBASE Population(Allele,Count): Gaucasian (C,51|G,65)SNP Type: UTR3 Gene Number: 10 Gene Symbol hCG2042142 Gene Name:Transcript Accession: hCT2347373 Protein Accession: hCP1911230Chromosome: 9 OMIM NUMBER: OMIM Information:Transcript Sequence (SEQ ID NO: 16): Protein Sequence (SEQ ID NO: 32):SNP Information Context (SEQ ID NO: 77):CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTAAAGTAAACCCTACCTAAAATGTACTGKGGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCTTCAGCTCACCTTTTCCGTCATCATCCCelera SNP ID: hCV30829528 Public SNP ID: rs13291973SNP Chromosome Position: 122654694 SNP in Transcript SequenceSEQ ID NO: 16 SNP Position Transcript: 1744 SNP Source: dbSNP; HapMapPopulation(Allele,Count): Caucasian (G,107|T,9) SNP Type: UTR5

Gene Number: 1  Gene Symbol: C5 - 727 Gene Name: complement component 5  Chromosome: 9  OMIM NUMBER: 120900 OMIM Information: C5 deficiency (1)  Genomic Sequence (SEQ ID NO: 78): SNP Information  Context (SEQ ID NO: 92): TGTTCTGCCTATGCTTAGGTAAGACATTAGGAAGAACTTCCCTGAGTACTGTGATGACTTAATAGTAGGCTCTGATGCTTGGGAAAGTCATTAGTACAAA S GACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAGACCTGGAGGTCTGGAACCATAGTGGATAGATCTCCTTTCTC Celera SNP ID: hCV16234795  Public SNP ID: rs2416804 SNP Chromosome Position: 122716217 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 5617 SNP Source: Applera Population(Allele,Count): Caucasian (C,20|G,18) African American (C,12|G,26) total (C,32|G,44) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,62|C,58)  SNP Type: INTRON Context (SEQ ID NO: 93): CTATAATATTCAACAACCCTCTCGATGGTGTTTCCCTGCCTCTGTACAGCATGAACTATCAGGTTGTTCAGGAACTGTGAAAATGTAGTTTTACAATGCT S AAGGAATCATTAGCTTTCAATTAGCTGAGATAGCATTTCTACTTCTGAGAAAGAACAGTTTACCAAACAGTGTCCCCCAGATTAACCTCAGGTTATGAAC Celera SNP ID: hCV22272061  Public SNP ID: rs16910233 SNP Chromosome Position: 122763432 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 52832 SNP Source: Applera Population(Allele,Count): Caucasian (C,38|G,0) African American (C,26|G,4) total (C,64|G,4) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,120|G,-)  SNP Type: INTRON Context (SEQ ID NO: 94): AAGCTACTCCATCATCAACACGTGTTACACTTTTGCTTGGATCCAAGTCAGATGTCTCTTGGTTTACATCAATTGTTTGTGCATTCAGTGTTACTGGGAC Y CCTCCTACCAACTGGTCAAGCGAATCTTTAACCTGCACCTGTTTGTCAAAACAATCCAAATCTATTTCAACAGCTCATCACTTATTTTAAAGCACAATTC Celera SNP ID: hCV25473087  Public SNP ID: rs10985126 SNP Chromosome Position: 122823755 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 113155 SNP Source: Applera Population(Allele,Count): Caucasian (C,1|T,33) African American (C,9|T,25) total (C,10|T,58) SNP Type: ESE;SILENT MUTATION  SNP Source: dbSNP; Applera Population(Allele,Count): Caucasian (T,87|C,29) SNP Type: ESE;SILENT MUTATION  Context (SEQ ID NO: 95): GGACAGCAACAATGTTCTCAAACACACGCAGCTTCCCCTCCAGCTCAGCCAGAAGCTTCTCCTTCATGAAGTGCTGCAGGGCCAGCTCCTCCTGGCTCTC R GAGCAGGGTGCCCGGTAGCAATCGACCTCCAGGTCCCCCGCCACTTCCACGGCTGCCTGCAGCTGCAGGTCTGACAGGTTCTGCTCCAGGGCCATGGGCC Celera SNP ID: hCV25763321  Public SNP ID: rs3747841 SNP Chromosome Position: 122715622 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 5022 SNP Source: Applera Population(Allele,Count): Caucasian (A,1|G,37) African American (A,3|G,35) total (A,4|G,72) SNP Type: ESE;SILENT MUTATION;PSEUDOGENE SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,114|A,2) SNP Type: ESE;SILENT MUTATION;PSEUDOGENE  Context (SEQ ID NO: 96): GAAACGCAGAAGCCAGAGGCAGTTGGGAAGTGCTGGACTTTGCAGATGTGGGACTGGGATCCAGTGGTCAGGCATGCCCAAGGTCAGCGGCTCAAAACCA K GAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGGAATGGGCTCTTGGGGGTCATCTAGCTTAGTGTTTGTCAGCTGGCCATCC Celera SNP ID: hCV25766419  Public SNP ID: rs12377786 SNP Chromosome Position: 122711580 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 980 SNP Source: Applera Population(Allele,Count): Caucasian (G,0|T,36) African American (G,4|T,34) total (G,4|T,70) SNP Type: INTRON  SNP Source: Applera Population(Allele,Count): Caucasian (G,0|T,38) African American (G,5|T,33) total (G,5|T,71) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,117|G,1)  SNP Type: INTRON Context (SEQ ID NO: 97): CAAGGTCAGCGGCTCAAAACCATGAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGGAATGGGCTCTTGGGGGTCATCTAGCT Y AGTGTTTGTCAGCTGGCCATCCAAGTCATACACTGCCGGGCCCCACCCTCAGAGTTTCTCACTCAGTGACCCTGGGGTGAGAACTGAGAGTTGGCACTTC Celera SNP ID: hCV2783618  Public SNP ID: rs2239658 SNP Chromosome Position: 122711658 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 1058 SNP Source: Applera Population(Allele,Count): Caucasian (C,23|T,13) African American (C,27|T,11) total (C,50|T,24) SNP Type: INTRON  SNP Source: Applera Population(Allele,Count): Caucasian (C,24|T,14) African American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,51|C,69)  SNP Type: INTRON Context (SEQ ID NO: 98): GTCATTAGTACAAAGGACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAGACCTGGAGGTCTGGAACCATAGTGGA Y AGATCTCCTTTCTCACACTCAGATGCTTACCTTGAAGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAGCCTCAGCCACCTCGGGGTGAGCCTGG Celera SNP ID: hCV2783621  Public SNP ID: rs2416805 SNP Chromosome Position: 122716303 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 5703 SNP Source: Applera Population(Allele,Count): Caucasian (C,24|T,14) African American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,51|C,69)  SNP Type: INTRON Context (SEQ ID NO: 99): GGCATCCCTGTTTAGGACATAGCTGACACTCAATATATGTTTAAGTAGTGAAGAGATAGATTTATAAAATAAAGAGTGGAACAGATGATTTCAATGGTCT Y AGCCAATTGTAAAATACTACAGAAAGTTCTTCATTTACCTCTACTGGCCTCCCAAGGAAATTCTTGTCTGTCATTTTATAATTATGTAAGGCACCTTTAT Celera SNP ID: hCV2783677  Public SNP ID: rs2269066 SNP Chromosome Position: 122776839 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 66239 SNP Source: Applera Population(Allele,Count): Caucasian (C,35|T,1) African American (C,30|T,6) total (C,65|T,7) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,102|T,18)  SNP Type: INTRON Context (SEQ ID NO: 100): CTGACACTCAATATATGTTTAAGTAGTGAAGAGATAGATTTATAAAATAAAGAGTGGAACAGATGATTTCAATGGTCTCAGCCAATTGTAAAATACTACA S AAAGTTCTTCATTTACCTCTACTGGCCTCCCAAGGAAATTCTTGTCTGTCATTTTATAATTATGTAAGGCACCTTTATGCTTGTAAGAAACATCGATGTC Celera SNP ID: hCV2783678  Public SNP ID: rs2269067 SNP Chromosome Position: 122776861 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 66261 SNP Source: Applera Population(Allele,Count): Caucasian (C,2|G,32) African American (C,12|G,24) total (C,14|G,56) SNP Type: TFBS SYNONYMOUS;INTRON SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,91|C,29) SNP Type: TFBS SYNONYMOUS;INTRON  Context (SEQ ID NO: 101): AGAACCATCTAGATGAGGAGTTTGCTAACCTTTTTTATGTAAAGGGGTGGATAGTAAATATTTTGGGCTATGAAGTCTTTGTTGCAAGTACTCAATTTTA Y ATAATTTTCATGTGTCCCAAAATATCTTTTTTTGTTTTTTTGAGACAGGGTCTCATTCTGCTACCCAGGCTGGAGTGTAGTGGCACGATCATGGTTCACT Celera SNP ID: hCV2359565  Public SNP ID: rs1014530 SNP Chromosome Position: 122724913 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 14313 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,63|C,57) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 102): ACCTGTAGGGAAGACTGTTCAGCCAGGAACACCAGAACCCGGCTTGGGGATGGGATGGGAATGGCGGGATGTGGAGATTGATCTGCCCCAGATGTGTTTT S CTGACCACGCCTCACTCAGGTGTGCGTCTGCATCTGAATGTGCTGCCCCCTGCCTGGCCTTCCTTTTCCTTATCCACCAGGAATCCAGCTCATATGGCCC Celera SNP ID: hCV2783620  Public SNP ID: rs7021880 SNP Chromosome Position: 122713711 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 3111 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,68|C,46)  SNP Type: INTRON Context (SEQ ID NO: 103): ACTGAATGTTATAGCGATCCCTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGATGGCTTGGGCCACATGACTTTGCACA Y TGCTGTTCCCTTTGGCTATCTCCTTTCCACCCTTTAAGCTTCCACCCTTCCATGACCTTCCTTCAAAACAGGACCTGGGCCCTTACTGTGATCCTGGGCA Celera SNP ID: hCV2783622  Public SNP ID: rs758959 SNP Chromosome Position: 122716520 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 5920 SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|T,69) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 104): TTGGCTTGTGGTCCCTTCCTCCATCTTCAAAGCCAGCAGTGGAGCATCTCCCCTTCTCTCTGACCCTCATCTCCCTCTTCTGAGGACACTTGGGCCTCCT R GATAATCCAAGGTCACCTCCCCATCTCAGAATCCTTCATTTAATCGTGTCTGCAGAGTCTGTTTTGCCATTGTTATGGGCTCAGCAACCCCCACCCAAAT Celera SNP ID: hCV2783625  Public SNP ID: rs10118357 SNP Chromosome Position: 122719889 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 9289 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,63|A,55)  SNP Type: INTRON Context (SEQ ID NO: 105): GGGTGCCTATAATTCTACCATGAATTATAGTGCCTTCACTTGGCTTAAGGCAGCAAGTTTCAAACTGTGCTCTGCAGGGCCCTAGGAGTCCCCAGAACCT Y TTAGGGGCTCGGATAGGAGAAAGAAATGGGGCAATTAACAGGTCGGGGCTCCAGGATCCCCCTCCATCAGAATGCTTTTACTTTCATCTGATTGAAAAAG Celera SNP ID: hCV2783630  Public SNP ID: rs2269060 SNP Chromosome Position: 122723390 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 12790 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,63|T,57)  SNP Type: INTRON Context (SEQ ID NO: 106): AGAGCCAAACAGTGAGGCTCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAGTGTAAAGTTCCAAGAACATGCATTTG K TCCTTACTCTTACTCTCTGAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCAGCTCTGGGTGGGACAGGAAATTCCCC Celera SNP ID: hCV2783633  Public SNP ID: rs7021049 SNP Chromosome Position: 122723803 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 13203 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,63|T,57)  SNP Type: INTRON Context (SEQ ID NO: 107): CCAGGGTTCTAAATTGTAGCTCCTGAAAATGTCTCTCTGGCCTATCACACTTCCAAATGTGTCTCTTATTCCTAGAAGCACCGTTTGACAGAGCTCAGGA S GTGAGCTGATAATGGTCTCTCCCCACCTAAAGGCAAACAGAGGCAGACAGAACCATCTAGATGAGGAGTTTGCTAACCTTTTTTATGTAAAGGGGTGGAT Celera SNP ID: hCV2783634  Public SNP ID: rs1014529 SNP Chromosome Position: 122724764 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 14164 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|G,69)  SNP Type: INTRON Context (SEQ ID NO: 108): CACCATCCACTCTCCTGACAGCTCCAGAAGCCTCAACTATCAGCAGGGTGGTGATCATGTACGTCCACAATCCCAGAGCCACAGTTCCTAAATCGCAAAA S TGCCGAGTATCCCACATTTTTTGGTAGTTTGCAGTGAGCTTCCTGGGCTGCCAAACCTGCCGTGACTGCACTGACCGGAAGCTATTATAGCCCTTACTTG Celera SNP ID: hCV2783635  Public SNP ID: rs1930780 SNP Chromosome Position: 122726040 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 15440 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|G,69)  SNP Type: INTRON Context (SEQ ID NO: 109): TCTTGTCTCATCTATCAAATGGAGAAGACAATCCCTACACATCTTTCCATCCTGCTTGGCTGCTACAGAGGTTTTGCAAACTTTCACAGTGGTTTCAGAT Y ATGGGTTTTGAGGTCAGACAGAGCTGAGTTGAAATCCTGGGTCCACTGCTTACTAACTGTGGGCCCTGGGACAAAGTCCTTAACTTCCCTGAAACTCAGA Celera SNP ID: hCV2783638  Public SNP ID: rs3761846 SNP Chromosome Position: 122729418 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 18818 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,63|T,57)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 110): TCCTGCAGCCAGCCCTACCTGTTCCCTCCTTCCCCTGGTTTGGGATAAAACAGGCACCCAAGACTTCTCTCCCCATCTGTGGGTCCCTTCTCTCCCCTCC R GCCTCAATACCACCCTCTCTACCTGCTCATTCCCACGGACATCAAAACGTGCGCAACCTGCTCTAATAAGAAAAGGGAAAAATAGTACTACTTTTGGGTA Celera SNP ID: hCV2783640  Public SNP ID: rs3761847 SNP Chromosome Position: 122730060 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 19460 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,62|A,58)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 111): GCACCCAAGACTTCTCTCCCCATCTGTGGGTCCCTTCTCTCCCCTCCGGCCTCAATACCACCCTCTCTACCTGCTCATTCCCACGGACATCAAAACGTGC S CAACCTGCTCTAATAAGAAAAGGGAAAAATAGTACTACTTTTGGGTACCGTCTTACGTAATTTTACAGACATCATCTCATCTAATTTTCACTCTGTGAAG Celera SNP ID: hCV2783641  Public SNP ID: rs2416806 SNP Chromosome Position: 122730113 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 19513 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,49|C,67)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 112): AATCTCCATCTTGGTTCTTATTACACTTATAATAACTAGCATTTTTAAAAACGTGCCTGTTTACAGGTTTTTTTCTTTCTACCACAGAATTATGAATACA Y GAAATTGTAGGAATATATGAAAATGTGTATAGGAATATATGAAATTAGATGAATTAAAACCATGAAAGTAAAGCTGTATCTGATTTCATTGTTGTTTCCC Celera SNP ID: hCV2783647  Public SNP ID: rs10739580 SNP Chromosome Position: 122735103 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 24503 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,51|T,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 113): CCTTATCTTCCACTTGTCTCATATAAGCAAACTGCTTAAGGGTCTCTGTCTGCACCTCCCTTGAGTCCCACTGCTGGGTGTTTGCTTACATTACTTCTCC Y CTCAGAAATAACTTCATTTCAGTGTATCCAAACCTTAGTCATTCTTCCAGACCCAGCTTAGAGGCCATCTTCTCCATGGAGCCTTCTCCACTGCATGCAG Celera SNP ID: hCV2783650  Public SNP ID: rs10760129 SNP Chromosome Position: 122740004 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 29404 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,63|C,57) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 114): CTTCCAAAGCAACTAAAAGCTTGGGCTTACCTCAGATAAAGGCACTTAACCATTACCTGAAAGATCAGCTGTGCTTCAGGCTTTAAACCCTTAATTGCTC R GTATTCTCATGTTCACAGGTTGAGGGACTCAGTATTAACGTGCCTTTGTTGCAAGTTCTTGTAAACAAAGACAGTAAAATTATGGTTCTGATGTTCTATT Celera SNP ID: hCV2783653  Public SNP ID: rs10760130 SNP Chromosome Position: 122741811 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 31211 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,63|A,57) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 115): GCCAGAGTGAGCAGAAAAGCTGACAGGAGCACCTGCTCTTCGGCTTGCTGTTGAAATCCTGAAGGCTGGGTCAGGGGCCAATGAGCAAGTGGGAGTGAGG R CACAAAGTGAGGCTTGGATCTGGTACTGAAGGCTCCTTTGCAGAGGCTGTTTCTGGGTTGCAGCTACTCTGCTTAGGACACGGGATCTGGAACATTAAGT Celera SNP ID: hCV2783655  Public SNP ID: rs10818488 SNP Chromosome Position: 122744908 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 34308 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,63|G,57) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 116): TCCATAAACCTCCAGGAACACAGAGGCCTCTTCACGTAGTTCTGCTGCTGCCAGGCCCATTCAGCAGCATGCTGGCCCTGTATTCCTTTGCTTCCTGCTC S GCCACTAGAGCAATGGCATAATTTTTAAAAAGTGAAATAACATGAATAACATTTGCTAGGAACATTACAAAAAAGGTGAAGTTAAAAAAAAGAATCCCTA Celera SNP ID: hCV2783656  Public SNP ID: rs4837804 SNP Chromosome Position: 122745125 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 34525 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,51|G,59) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 117): CAAAAGTTAACAGGATGACCCATCCCAGACCTATAGAATGAGAACCTGCACTTTCACAAGCTCTTAAACAACACTTCTGAAACTTTAACATGCCTATAAT W TTCCTGGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGAGGCGCAATCTCGGCTCACTGCAAGCTTCACCT Celera SNP ID: hCV2783659  Public SNP ID: rs7039505 SNP Chromosome Position: 122745766 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 35166 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,42|T,64) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 118): TTTTGTTTGGCTTGAGGGGACCTCATCTCTTGTTTTTTCTCCTAATTCAATGGATCCTCTATCTCTTTTCTCTAATAACTTCATCTTGGAATGCTCAAAA K GTCTATCCTTGGTCTTCTTTTTTTCCACTCCTCTGTCTGTATTCACATCCTTAGTGATCTTAACTAGTCTAATGGTTTTAGTATGCTGATGATTCTCAGA Celera SNP ID: hCV2783663  Public SNP ID: rs10760131 SNP Chromosome Position: 122749962 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 39362 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,118|G,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 119): AAAATATAAAATTATTTGGTATTTGGCAACTGTTAACTTTGTGGAAAAGTACAAAATGTGAAAGACTTGGAAAACTTCAAAGATAGTAATTTTGGGATTC Y CAAAGAACTCACAAGTAGCCAGTTCCCCTACCTGGAATGCATTCCTCCCCATGTTGGCCTCTTGAATTTCATTTATCTTGAAAGTCTCCTTCAATTCTCA Celera SNP ID: hCV2783668  Public SNP ID: rs12004487 SNP Chromosome Position: 122756502 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 45902 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,106|C,12)  SNP Type: INTRON Context (SEQ ID NO: 120): TCACAAAAAACTATAAAAGTACTATAGAAAATATAGAAAAAACAGTTCTTTAGAAAAACATTTTATTTTAGGTTCGGGGCACATGTGCAGGTCTGTTGTA Y AGGTAAATGGCGTGTCGCAGAGGTTTGGTGTGCAGATTCTTTCATCATTCAGGTAATAAGCATAGTACCTAATAGGTCATTTTTTGATCTTTACCCTTCT Celera SNP ID: hCV2783699  Public SNP ID: rs10760135 SNP Chromosome Position: 122802827 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 92227 SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (T,63|C,57)  SNP Type: INTRON Context (SEQ ID NO: 121): GGAATATTATCCCATTAATGAATCTTGAGATATTTCTTTGTAAGAAGAATTATATCACTGCTTCTCATGAATCTCACCAGCATTGACCTATGACCCCCAT S TCTTCCATTTCAGTTCTTTTAAATTTTACTTATTCACTTTGTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTAAATTATTCTTTTTTCCTTTTCCTACT Celera SNP ID: hCV7577317  Public SNP ID: rs1323472 SNP Chromosome Position: 122866156 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 155556 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,62|G,58)  SNP Type: INTRON Context (SEQ ID NO: 122): TCAGGGACGGAAAGAAGCAAAAATGAAAAGAACAGAGAGCAATACAGAGACGAGAGATTGAACAGAGTTATGCACAAAGACAACACAGAGACAGAGGGAA R CAAATGAGACACACTGGAGGCAAAAACATAGTGAGAGAAAGGAGTCTATTTTCAAGGAATGATATCTCCATCTTAAGGCTTTTTAAGAATTTGCCACCAA Celera SNP ID: hCV7577337  Public SNP ID: rs993247 SNP Chromosome Position: 122825070 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 114470 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,76|G,44)  SNP Type: INTRON Context (SEQ ID NO: 123): GAATCTTGGGCTCACAATTCCCATCTGCATCCCTCCTTGGCCATCTATCCTTGACTGAGGTGTGTCCACTCCGCACAACTTTCCCTTCCAGATAACATCC W GCCTGAGGGAAGGGATACAGGAGGGTCTCAGTGCTATTATAATAGCAATTTGACCCCACTGTTAGCCTATTTAGGTCTGAAGCATTTACCAAATGCTTTC Celera SNP ID: hCV7577344  Public SNP ID: rs876445 SNP Chromosome Position: 122716923 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 6323 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69)  SNP Type: INTRON Context (SEQ ID NO: 124): TTAGCTGTTTTTCTAAAAATATAACTTTCATCAAAGCTCCTTACATTCACTACCACCACCCAAATAGGTCCTTGCTCCTCGGTCATCAATGCTTATAATT W GCAAGTGTACTTTAAGTTCCTGAAGAGCAGCAGCTTCAGGAGCCTACTTTGAAAGCGCCACCTGCTGGTATTAACTTAATAGCTTCCCAAAGAAAGCTGG Celera SNP ID: hCV11720394  Public SNP ID: rs1924081 SNP Chromosome Position: 122862268 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 151668 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,33|T,87)  SNP Type: INTRON Context (SEQ ID NO: 125): AAACTAAATAGATACTAACAAAGAATTACATCTTGCTAATCAAATCACTATTTAAATGCATATATCACTTAAACCTGCTTACCAGTGTTTGAAATGCCAA Y GCCTTGAATTTCCCAGGTGGTTAGAGAATCAGGTAGGGCAAACTGCAACTGTTTTCTGGAAGTTAAAATGTTGATATTCAAATACAGTGGAATATTGATT Celera SNP ID: hCV11720402  Public SNP ID: rs17611 SNP Chromosome Position: 122809021 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 98421 SNP Source: dbSNP; HapMap; ABI_Val Population(Allele,Count): Caucasian (C,76|T,44) SNP Type: MISSENSE MUTATION  Context (SEQ ID NO: 126): ACCAAGAGGTTTATATTTGTTATTATAAGGACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATGACACAGAAAACAGCTTTACAGACAAG Y GAGCTGCGGCTTAGGGACATTAGCAGAGCACCAGACCACACAGTGAGACAGTGGCCTCACAGCCTCGAGGCTCTCCTCGGTGTGGATGGCTTTCCCCTGT Celera SNP ID: hCV11720413  Public SNP ID: rs1930782 SNP Chromosome Position: 122727726 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 17126 SNP Source: dbSNP; HGBASE Population(Allele,Count): Caucasian (C,63|T,57)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 127): TCCCAGCAAACGGTCTGAGGTGATGAGCAATGCTGTGGAAGGAGAGATATTCGTCTAACAGTTTGTCATTCACCAAGAGGTTTATATTTGTTATTATAAG R ACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATGACACAGAAAACAGCTTTACAGACAAGCGAGCTGCGGCTTAGGGACATTAGCAGAGC Celera SNP ID: hCV11720414  Public SNP ID: rs1930781 SNP Chromosome Position: 122727655 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 17055 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,51|A,69) SNP Type: MICRORNA;UTR3;INTRON  Context (SEQ ID NO: 128): CGAGCTCTGCTCCCAAGATTTTCTGTTTCAGTAGGTCTGGGGTGGGGTCTGGGAATTTGCATTCCTGACAAACTCCCAGGCGGCCAGGGACCACACTTTG Y ATAGCATTGTTCTAAGGCTGACAGTCCTGAGGACCAAAAGAGGAAGGCAAATGGGAAAATTCGAGGCACTGGAGGAGGTTGTTTTTTAAGATAGTGGTCT Celera SNP ID: hCV15849116  Public SNP ID: rs2900180 SNP Chromosome Position: 122746203 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 35603 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (T,45|C,61) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 129): GTTTATTCCCAGGTATCACACTTCAAGGAACACAGATAAACAGAAGCGCATTTACCCCAAATGCACAGAGACTGGGGAAAGACTGCTCAGTGTCTTTCCA W GGAGGCAGGACTGACTCCAGGGATAGGAGGCTAAGTTGCCTTTTGTGACCTCAAGGGAGACAGACAGACTTCAGCTCAGTACAAAGAAAGAGGAGAATGT Celera SNP ID: hCV15875924  Public SNP ID: rs2269059 SNP Chromosome Position: 122722293 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 11693 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,108|A,12)  SNP Type: INTRON Context (SEQ ID NO: 130): AATGTGTATTAATTTTGTTAAGAGGAAAGAATAAAACAAGCTAAAAACAACAGTCCTAGAGCATTCAAGCAGGTAAGGGCCTTTTGCAAGTGAGGCATAG W GGCTCACAGAGTTGAGGGTCTGCTTGTGTCTCACAGCCGATCCACCAAGAGCCAAACAGTGAGGCTCAGGGAGTTACTCCACGGAGCAGCATATCATATT Celera SNP ID: hCV15875965  Public SNP ID: rs2191959 SNP Chromosome Position: 122723655 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 13055 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,108|A,12)  SNP Type: INTRON Context (SEQ ID NO: 131): GCACAATGTTACATATACATAGATTAAAGAGGTACATACATACAAAACAACATTACCTTTCTATTCAAAAGTATACAGCAAACACATTTGAGTGGGTACA Y TTGGAGGAAGGGGAATGGGAATGGGGTCCGGGATGAAGGAAAAAATAAAACGAGAGGGGCCTGCCTAAACCAATGAGGATGGTGTGTCAGGAAATGAGGG Celera SNP ID: hCV16077967  Public SNP ID: rs2159776 SNP Chromosome Position: 122795981 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 85381 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,64|T,56)  SNP Type: INTRON Context (SEQ ID NO: 132): ACATGGCACATGACTGTATCTTCATAAAGGCTTGTATCCAGAATATATAGAGAACTCTTACAACCTAATAAGAGACAAATGACCTAATAAAAAATGGGCA Y AGCCAGGCTCAGTGGCTCAACACCTGTAAGCTCAACACTTTGGGAGGCTGAGGCAAGAGGATTACTTGAGGCCAGGAGTTCAAGACAGCCTGGGCAACAT Celera SNP ID: hCV16124825  Public SNP ID: rs2109895 SNP Chromosome Position: 122717648 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 7048 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|T,69)  SNP Type: INTRON Context (SEQ ID NO: 133): GGTCACATGGCCAATTCATTGCCAAACCAGGACTAGGACTCAGGCTTCCATGCTCCCCACCTTACCCCCATCACCTTCACACCCATACCTTGTTCCGGAA R GGCCACGGCAGCAGCGCATCATACTCCCCTCTCATGATCACGATGAAGAGCGACAGATGGGTTCTCTTTCCAGTGCCATCTCCATTCAGGTACAGCCGCA Celera SNP ID: hCV16175379  Public SNP ID: rs2239657 SNP Chromosome Position: 122711341 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 741 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,50|A,70) SNP Type: SILENT MUTATION  Context (SEQ ID NO: 134): TACTTTATTATAAAAATATCTGTCAGACAATAGCATAAAACTGTTTTACTAACATGGTTACAATAACAGGATTCAGATAAAATGTAACAATTTGAAATTA Y GTAAAGCACTTGAGGCACTTTAAAGTGTCTTTCATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTA Celera SNP ID: hCV16234785  Public SNP ID: rs2416811 SNP Chromosome Position: 122829455 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 118855 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,76|T,44) SNP Type: TFBS SYNONYMOUS;INTRON  Context (SEQ ID NO: 135): TGTATTACAGAGGTATAGATCTATGATTCTATACTCATTGCAGATGTTCAATAACCATTTATGGAACATTGAATGATTTAGTGTAGTGTGAGGACAGGGT W ATGAAATGAGATTCTTGTCCTGAAAAATGAATTAAAGTATTATTTAAATAAATAAAATACTTACTATGAAAGTTAAGACAGTTTCTCTTTTGGCTGGCTT Celera SNP ID: hCV26144282  Public SNP ID: rs10818499 SNP Chromosome Position: 122839915 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 129315 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,76|A,44)  SNP Type: INTRON Context (SEQ ID NO: 136): TCTTTAAAATATCTGTTGAATGCATGTCGTGAACGCCGTGCTCATGGGCAAGCCCCAGATGAAGCCTGTGCAAGTGCTTCTTGCTTTAACTCCCTTGTAG Y AATCAGAGGAACATCCTCTGCCTAGGATTCCCAAGCTCCCTGAACCTCACGCGACAGCTGGAGCCCAGGCTGCGTCCGCTTTGAGGTTCATCCGAGCCTG Celera SNP ID: hCV29005933  Public SNP ID: rs7042135 SNP Chromosome Position: 122876474 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 165874 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43)  SNP Type: INTRON Context (SEQ ID NO: 137): TCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAGTGTAAAGTTCCAAGAACATGCATTTGGTCCTTACTCTTACTCTC Y GAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCAGCTCTGGGTGGGACAGGAAATTCCCCTGAACTCTCTGAATGAGA Celera SNP ID: hCV29005976  Public SNP ID: rs7037195 SNP Chromosome Position: 122723821 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 13221 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,63|C,57)  SNP Type: INTRON Context (SEQ ID NO: 138): GCTCTGGGTGGGACAGGAAATTCCCCTGAACTCTCTGAATGAGAGGGACCAGCTCAGAGAAAGGAGAAGGAGGTGTGGACACTCGCCTGCCTCTGGTCCA R CGGTAGGGGGATAGCTGCCCTGCCAGCACTGCTATCACGGTCTGGACATCACAGATCCTGGAAAGGCCTTGCAGAGCTGACTTAATATCCTCATTTTACA Celera SNP ID: hCV29005978  Public SNP ID: rs7021206 SNP Chromosome Position: 122723978 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 13378 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|A,64)  SNP Type: INTRON Context (SEQ ID NO: 139): AGGTGCAGCAAACCAACATGGCACATGTATACCTATGTAACAAACCTGCACGTTGTGTACATGTACCCTAGAACTTAAAGTATAATAATAATAAATAAAG Y GTCCTTCATGCACTATTACATTTCATCCTCATAAAGCCACATTAATAAAGCTATGTGCTAGATGAAAAAAATTGATCTTGGGGAGATCACAAGACTTAGA Celera SNP ID: hCV30563728  Public SNP ID: rs10156396 SNP Chromosome Position: 122830953 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 120353 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,32|C,84)  SNP Type: INTRON Context (SEQ ID NO: 140): GTGAAAGGCCTCTTAGTTTTGTCCAGTGGGGGAGGGTGACAAACTGAACACATTGCTGGATTCCTACGGCGGCAGAAGGAGTGAACGATGGGATACAGTG Y GGTGCAATGAACGTGGAATGGTGAAAGGTCTTTAGAGACTGGGGGAGTGGCCCAGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAAA Celera SNP ID: hCV30830832  Public SNP ID: rs10733648 SNP Chromosome Position: 122740600 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 30000 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,51|C,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 141): AATGATGCTGGTACTATCATTATTCGTACTTTGCAAGTGGTAAAAGGCTAACTTGGCTAAGGTTATACGGTTTGTAAGTAAATGGGGGAGGCCTTTATAT S AGTTCTCAGTTGTTATGTGTACAGTTGAGGTCAAGTTTATATGTTATTCACAACCATAGACTGTTCTCTTATTTTTACTTTTCATGTGATTTATACAATA Celera SNP ID: hCV30830407  Public SNP ID: rs10739585 SNP Chromosome Position: 122849360 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 138760 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 142): GACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCAGAAGTGGATACTACTGATTTTAGACAA Y TCACTTTCTGAAAAATAGTGTTTTAAGTTACATACACACTTTAACTTCTAAAGCAAAAGATAACATATAAAATAAAAAATCATTTTGCCTACCATAAATA Celera SNP ID: hCV30830340  Public SNP ID: rs10760134 SNP Chromosome Position: 122798246 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 87646 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,75|C,45) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 143): TTGTACATTTAAAAATAACTAAAAGAGTATAATTGGATTGTTTATAAAACAAAGGAGAAATACCTCAGGGGATAGATACCCCATTTTCCATGATATGATT R TTACTTATTGCATTCCTGTATCAAAGTATCTCGTGTACCCCGTAAATACTATTTACCCACATAAATTTAAAAATTAAAAAAAATTAAGAGAAAAAAAAGC Celera SNP ID: hCV30830377  Public SNP ID: rs10818496 SNP Chromosome Position: 122814284 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 103684 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,44|A,68)  SNP Type: INTRON Context (SEQ ID NO: 144): CCTCTTAAGACTGTTCCCAAGACCATGATCACTCATATTGGCTCAAAATATTCCACTCTGAAATATTTCACAGATTTTTTTTCCTCTGTTAGCAAGTCCT Y GGGCAAGGTCTAGTGCTGTCCTGGTCTTGGAGGCAGTGGACTTAGGGTGCAACACAGTTTAACACTAGCTGTGGCAGCCACAGGAGTATGTATGTCACTC Celera SNP ID: hCV30830417  Public SNP ID: rs7029523 SNP Chromosome Position: 122857434 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 146834 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 145): GTGATGGAGCCAAGATTCAAGGCCCAGCAGCCTCGCTCCAGAGACTGCATGGAACCACAGTGCAAGGATGCATGGGAATGTGCTTTGCACAAAATAAGTC R GTACATGTTTACTGAAGTGAATTTCATAGCTGAAAACAGAGAGTGAAGAGCCAGGAAATCCAGTCTGTCATTAATTGGCCATATGACCCTTAGCAAGAAT Celera SNP ID: hCV30830341  Public SNP ID: rs7040033 SNP Chromosome Position: 122798865 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 88265 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,75|A,45)  SNP Type: INTRON Context (SEQ ID NO: 146): GTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTGCACTGGAAGTCAGTGCTGCCCCGTCATGGTGGAACATAACACAGGACAGAATTCTGCAGG Y GCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGACAGAGGAGAATTCTGTGCTCCAGAGGGAGAAACCCAGGTCATGGCTAGCTTCACCACTGGC Celera SNP ID: hCV30830415  Public SNP ID: rs7855998 SNP Chromosome Position: 122855917 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 145317 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43)  SNP Type: INTRON Context (SEQ ID NO: 147): GGCCTCTAAGAGAGAATTTCTGCAATCTATGGGCAGGGGCCTCTAAGAGAGAATTTCTGCAATCTACGGGAGGTTGCCCAGATGTAGCCTCTGTGGGGCC W TTCAATTCTACGGGAAAAGGATTCAAAGAGTTAAGTGTTTGAATTAAAAATTGATGGACTCGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTT Celera SNP ID: hCV30830725  Public SNP ID: rs7864019 SNP Chromosome Position: 122732689 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 22089 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 148): AACCACAGGCTGCACAGCAGGAAAGAGAATCCGTGTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTGCACTGGAAGTCAGTGCTGCCCCGTCA Y GGTGGAACATAACACAGGACAGAATTCTGCAGGCGCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGACAGAGGAGAATTCTGTGCTCCAGAGGG Celera SNP ID: hCV30830414  Public SNP ID: rs7871371 SNP Chromosome Position: 122855883 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 145283 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,85) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 149): AGCAGTGATTGAATTCCAGCTGTGGCATCTGCTGGCTGAGTGACCGTGGTAAAGTCACTAAGTCTTTCTGAGGCTAAAATAACTTACTGTGAAAATAATC R CCTTCTTTACCAGGCTCTGGTAAAGATTAAATAAGAACATATATATGAAAAGGTCTAGCACTCTTAGTACTCAATACATGTTAAGATTTATTAATCTCAC Celera SNP ID: hCV30527383  Public SNP ID: rs9644911 SNP Chromosome Position: 122848925 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 138325 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,31|A,83)  SNP Type: INTRON Context (SEQ ID NO: 150): GATAAGTGTCATGAAGAAAATAAACAAGATGCTGAGATAGGGAGTAAAACAAAGCAAGAGATTACATTACATCATGCATCCAGGAATAGCCTTTTTGTAG Y AGCTTCTACTCTGGGTCATAACAATGAAAAGAAGCCAGGCTTATGAAGAGCCAGGTGAAGCCCATTCCAAGTAGAGGGGATGACATGTGCAAAGGCACGG Celera SNP ID: hCV30830395  Public SNP ID: rs10985132 SNP Chromosome Position: 122835515 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 124915 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 151): AATAAATAAGTGAATAAGAGTCTTTAAGAAAGGACACTCTTCCTTAGTAGACCTTAATTTTTAAATTTGGGTCTCCATTTATTTGCTTTTCTACAATGTA Y GGGTTAAAATCTCTGACTTTAGAGTTGCAAGAGATCTTTGAGTCATCTATTCTCTTTCCTCACTTGATCAATAATCTCAACAGACCACTCTACTGGAACA Celera SNP ID: hCV15755667  Public SNP ID: rs2300931 SNP Chromosome Position: 122765966 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 55366 Related Interrogated SNP: hCV25763321 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,1|T,39) African American (C,5|T,33) total (C,6|T,72) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,118|C,2)  SNP Type: INTRON Context (SEQ ID NO: 152): AGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAGCCTCAGCCACCTCGGGGTGAGCCTGGAAATAATAATCACATCACTGAATGTTATAGCGATC Y CTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGATGGCTTGGGCCACATGACTTTGCACACTGCTGTTCCCTTTGGCTAT Celera SNP ID: hCV16175378  Public SNP ID: rs2239656 SNP Chromosome Position: 122716439 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 5839 Related Interrogated SNP: hCV25763321 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,37|T,1) African American (C,35|T,3) total (C,72|T,4) SNP Type: INTRON;PSEUDOGENE  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,118|T,2) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 153): ATAATTTGTGGCTTACCTGGAGCTGGTTGCCACATTTTTCTTCAATATTTAACCAGACTGAATCAGACACTAATTCTGCTGTCTGTTCTCCTGTGACGAT R TAATAGACCAGAAGTCGGGATGAAGGAACCATGTTCTGTGTTACTGGAATGTTTATACTTTGATAAGATGCATCTGAAAATTTCTCCCTCGTGCCAAAGT Celera SNP ID: hCV2359571  Public SNP ID: rs25681 SNP Chromosome Position: 122819826 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 109226 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,13|G,19) African American (A,9|G,29) total (A,22|G,48) SNP Type: SILENT MUTATION  SNP Source: Applera Population(Allele,Count): Caucasian (A,14|G,22) African American (A,9|G,29) total (A,23|G,51) SNP Type: SILENT MUTATION  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,76|A,44) SNP Type: SILENT MUTATION  Context (SEQ ID NO: 154): TTTAACTGATTATACAATCTTTGATGTACAAAATATTTATAGATCAAATATTTGAAGACAAATACCCATGTCTTCAAATTAAATATGAAGGATGAAGATC W GTTAAATGTTATAGAAGGGAAATATGGTTCATTTCAGCCATTTCCCTTCTTCTTTTTCCAATCTTCCCCATCTCTCCTCATTATCTTGAAGAGACTCAAC Celera SNP ID: hCV25472748  Public SNP ID: rs10760138 SNP Chromosome Position: 122837145 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 126545 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,8|T,2) African American (A,20|T,10) total (A,28|T,12) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,32|A,86)  SNP Type: INTRON Context (SEQ ID NO: 155): GAAAATGAAGCATTCACAACACGATTTAAAAGAAAACACATACGGCTTTTAAGTCTTCTTCATTTGCACTGATTCCAGTAGGCAAGGAGATGTCCATCAC Y GCATGAGAGGATCCAGATGATGATTCTTCCCTGCTGGGCTTGTAGCTAAAATAAAAAAGAGGTTAGAAAATATAATAAATAAGTGAATAAGAGTCTTTAA Celera SNP ID: hCV25613570  Public SNP ID: rs12237774 SNP Chromosome Position: 122765792 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 55192 Related Interrogated SNP: hCV25763321 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,39|T,1) African American (C,34|T,4) total (C,73|T,5) SNP Type: SILENT RARE CODON;SILENT MUTATION  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,118|T,2) SNP Type: SILENT RARE CODON;SILENT MUTATION  Context (SEQ ID NO: 156): AGCTTTGGAGTAGCTAAGTCAGGAGTAAACTCATATCTGACTTCAAAGACAAATCTCTTAACACTTCACAAGGAATCTCCTCTAATAACACAAGGCAAGG Y ATTGGCAGAGTAAACAAAGAATGTCAAGAACATGAGAAAATTTTAAGACAACTAGATAACATCAAGCTGCTTCCCTTGGGTTCTGTGATCATTAGTGCTA Celera SNP ID: hCV782872  Public SNP ID: rs758958 SNP Chromosome Position: 122864670 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 154070 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 157): AGATTGGCCCACATTTTACATTGGGTCTCTCTTGGGATTTTGGCTTTTGGAAGTCTCTCTTCTTTTAGCAGGCTAGAAAGGCATATGAGTGCAGTTATAC R GCCAGGCTGCCTCTCCACTTATCTATACATCTGTATATATAAAGATGCTTTAGTTACATCTTTGAAAAAAGGCAATGGCAATAAATAGAAACAACGGACT Celera SNP ID: hCV2783682  Public SNP ID: rs7861142 SNP Chromosome Position: 122786620 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 76020 Related Interrogated SNP: hCV2783677 (Power=.51) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,99|A,17)  SNP Type: INTRON Context (SEQ ID NO: 158): AAGTCAGTCAAGGAGTAGGTGTGATAAGGTCTTCTGCTATCTAACTTCTGTATTTCTTTGATTGGTTTAGGACTGGATAAAGGAGAAAATGAGGCAATCG Y TTCTGGGAATAAGTCCCTTGAATATGAGAAACAAAAATAGATACACCTTTTTTCCTTTAACATCTACCTCTCACTGCCATATATATATATATATACACAC Celera SNP ID: hCV2783711  Public SNP ID: rs10733650 SNP Chromosome Position: 122824319 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 113719 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,76|T,44)  SNP Type: INTRON Context (SEQ ID NO: 159): CCATCCCCACCCCAATCCTGGTCCATGGAAACATTGTCTTCCACAAAACCTGTCCCTAGTGCCAAAATGGTTGGGGACTGCTGGTCTATGTGATGGTAGC Y GTCAAGCAAAAATACATAGTGTTTAGAAGCCCCTAAAAGAATATTCTGGAACCACCCTTTATAAAGATTTTGGTTCTTATTGACTTATCAGTAGCATAAT Celera SNP ID: hCV2783718  Public SNP ID: rs10818500 SNP Chromosome Position: 122850704 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 140104 Related Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV25751916 (Power=.8) Related Interrogated SNP: hCV2783604 (Power=.8) Related Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP: hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,60|T,52) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 160): GTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTAAATTATTCTTTTTTCCTTTTCCTACTCTATTTCTCATTTCCATTTCTTTTCTCTGTAATATATAAT Y GAGTATGATTTTATGTATTTGAGATTTTATGTTTTTCAATCTTAAGTTAACTTCACTTTTTTCATTTGTAGAATAGGAGATATTGTCTACTCTGTCCACC Celera SNP ID: hCV7577311  Public SNP ID: rs1323473 SNP Chromosome Position: 122866297 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 155697 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (T,32|C,84)  SNP Type: INTRON Context (SEQ ID NO: 161): ATATAGAGGAGAAAGGCACTGGAGGCTTCGGTGCCAGCAGTTTAAAGACTGACTGGAGAGAGGGCGGAGGTGGAGCAAGATGGCTGAATAGAACCCCCCC M GAGATAGTTCTCCACACAGGAACACCAAATAGAACAACTATCCACGCAAGACAGCACCTTCATAAAAGCCATAAAATCAGGTGAGTGATCACAGTGCCTA Celera SNP ID: hCV7577328  Public SNP ID: rs1323476 SNP Chromosome Position: 122855591 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 144991 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,33|A,87)  SNP Type: INTRON Context (SEQ ID NO: 162): AGTGTTTTAACCCAAAAGGGCATAGTGATCGACTAATTCAAGTGGCCCAACAAGCTTGGAGGGCACCCACCACCCCACCTGGCAGAATTATTCCAGGCTT Y TGCCAACATTGTGACATTTTAAGAGTCTGGTAAAAGCAGGAAGTTTTTAGTAACAATGGAATTAATTTATCAGCAATTAAATCCTTTAAAGCATCTGACA Celera SNP ID: hCV7577331  Public SNP ID: rs1468673 SNP Chromosome Position: 122849711 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 139111 Related Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783604 (Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,62|T,58)  SNP Type: INTRON Context (SEQ ID NO: 163): ATAATGGAAGTGAGTCTATACATGCTTTTGAGTGATTTTTAAAAATTATTTTATTTAAAAACTTACAAATATAAACTGGATTACTAAGTGTATATCACAA R AGTATCTAATTTGAATAGCGAGAACTACATACGCTATTACATAGGAAAAAAAAGTGTTTTAACCCAAAAGGGCATAGTGATCGACTAATTCAAGTGGCCC Celera SNP ID: hCV7577332  Public SNP ID: rs1468672 SNP Chromosome Position: 122849558 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 138958 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,33|A,87)  SNP Type: INTRON Context (SEQ ID NO: 164): GAAGCTGGAGGTTTAGTTTACATTTAGAAAGTTAAGGTGATAGCAGCACTTTCTCTTAGCTACTGCAGCCAAGGAAGACTTTTAATCATGTTGACCAGAA M ATGTAAATGGGGTCAATATTTTTTGCTCAATGAAGAAAAAAGCAGTGATTGAATTCCAGCTGTGGCATCTGCTGGCTGAGTGACCGTGGTAAAGTCACTA Celera SNP ID: hCV15755658  Public SNP ID: rs2300934 SNP Chromosome Position: 122848784 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 138184 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,77|A,43) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 165): TTGCTTACACTTCCCTTTGACAACTGTTACAAATTTAAAGGTAATTGTGATCATGCTCCTCCCCAGCTGGTAGGTGCCCAAGGGTAGGAATGGCATTTAG K GGGAAAGAAGCTGCCTGGGAAAGGGCGACCTTACTGGAAAGACATTAGGGAATGAGGAAAGATGTTTGAGCGGGAACAGAGAGCAGGGACTGGCCACAGA Celera SNP ID: hCV15875956  Public SNP ID: rs2269065 SNP Chromosome Position: 122768779 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 58179 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,118|T,2)  SNP Type: INTRON Context (SEQ ID NO: 166): AGCATATTCCACCCGCCTTTCTGGAACATTTTGTCCCCAATTTGTAAAAACCAAAGGATAGACTATTCAAGATTGCATTTCTCCTTGCTTTCTTTTGTAT R TTGATAATCTGGAATTAGGCCTCCTGACAATGAAGTCAAATGAATGAATTTTTGATAACAGCTTTTTTCTGTACGGCAGAATTGTGGATAATTAGAACTG Celera SNP ID: hCV15875964  Public SNP ID: rs2269063 SNP Chromosome Position: 122768371 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 57771 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,118|G,2)  SNP Type: INTRON Context (SEQ ID NO: 167): CTTTGACACTTGACAGTTTTATTATGATGTAGTCAGGTGTGGTTCTCTTTGAGTTTATCATACTTGGAGTTCATTGAGTTTTCTTGAATGTGTGGATTAA Y GTGTCTCATCACATTTGAAAATTTTGACCATTAGTTCTTCAAATATTTTTTTCTGTCCTTTCCTCTCTCTCTCGTCTCCTTCTGGAACTCTCTTCATGCA Celera SNP ID: hCV26144291  Public SNP ID: rs4570235 SNP Chromosome Position: 122865107 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 154507 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,76|C,44)  SNP Type: INTRON Context (SEQ ID NO: 168): TATATTATTTAATTATTAACACAACAGTAAAATAAACTTTGCCTTATTTTTTCTTATAAAATTGAGCGACTTGAGGGCAGGCATTTTTGTCTTATTTAGC Y TTACATCCCAGTGTCTAGCATAGAATTTTGCATTTTAAAAATGCATTTAATTTACATCTTGAATTAATAAGATTGTAGAGGATAAATGATTGATGATGCA Celera SNP ID: hCV29005922  Public SNP ID: rs7033790 SNP Chromosome Position: 122828213 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 117613 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 169): GATTGTAGAGGATAAATGATTGATGATGCAAACCAAATGAATACGAAAAAGTGAGCAAAAATGACATGAACTCATATCATCTGTGGTATAATGTAAAGAA Y GCTGAATAAGGGAAAGGGAACCAGCGCCCTAATCTCAGTTCCAGCAATCATTAGCCCTAAACTATGGACAAATAACTTCATGAATATTTCCTTGCAAGAA Celera SNP ID: hCV29005923  Public SNP ID: rs6478494 SNP Chromosome Position: 122828384 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 117784 Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,31|C,85)  SNP Type: INTRON Context (SEQ ID NO: 170): ATTGTAATTTTAAAATGACCTAAGCTTTTGTGATAGGTTGCTTGCAAAACTAACCCCCAATTCTCTACCTCCCCATGTATCAACGACCTTTGCACAGTTC M TTGTGTCCACAAAGTGTGGGAGGGGTCTATTTCCTCTGGGCTGACCTTGTAACTTGCTTTGGACAAAAGAATGTGTGGAAGTGATGGTGTGCCAGCACCA Celera SNP ID: hCV29005924  Public SNP ID: rs7031128 SNP Chromosome Position: 122831757 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 121157 Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,26|A,78)  SNP Type: INTRON Context (SEQ ID NO: 171): TTTAAGGAGCTTATCCAAATGGTGACAACACAATAGCTACCCATTATTAGCTTCCAACATTTATCAGTTATTGTGATAATTAACTTGCTAAATTATCTCT Y ATCTTGACAACCATGCAGAAGGGTGTTATTACCCTCTGGTTACCAATGAGTAAACTAAGGCTCAGAAAAATGTAGTGCTTCAGGGAACACATCTAATAAT Celera SNP ID: hCV29005931  Public SNP ID: rs6478496 SNP Chromosome Position: 122860313 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 149713 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 172): AGAGACTGTGGCAGGCAGGCATACACACGCACATGCTCGCAGGATGGCTGGCTTACCCAAGATTTCAAAAGAAGTTGGAAATCTGGATTTTTATGTGAAA Y GACTTGATTTTTAGAACACCCTATAAGCCAAAAAATAAACCCAAACCAAATGAGCATCCCTATGAACTGTGTCTGTGGGCCACTATTTGTGACCTCTGGT Celera SNP ID: hCV29005991  Public SNP ID: rs7863127 SNP Chromosome Position: 122737851 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 27251 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,118|T,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 173): TCTGAACCGCTGCACAAACCACCACCCAGATGCCTGCACTCTGAATTAAAATTGCCAGTTACTTTGCATCCTTCTCTAAACTAAGCTTTATGAATTTAGA S ACTGTGTTTCATTTGCTGGTGCATCCCATCACCTGGCACTATGCCCAGCAGAGCACAGAAGGTGCTCAATACGTACTGGTGGGATTGTACCCACAGGCTC Celera SNP ID: hCV29005993  Public SNP ID: rs6478491 SNP Chromosome Position: 122738311 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 27711 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,118|C,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 174): ATAGAATGACTAAATGATAAACCTATCAAAAATAGTAACTACAATTATTTTTTAAGAGACAGACCATGTAAAAAGATACAAATAGATAAAACAAAAAGTC M AAATGCAGGAAAAAGTGTAGATGTTTGTTTGGCTTTCTCTGCTTGTTTTTAAAAACTTTTCTTTCTGATAATAGTTAAGTTGTTATAAGTCTAAAATAAT Celera SNP ID: hCV29734592  Public SNP ID: rs10435889 SNP Chromosome Position: 122859566 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 148966 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,76|C,42)  SNP Type: INTRON Context (SEQ ID NO: 175): AATATTCTATGAATTATATTTTTTAGCCAGATGTTTTATAAATGTATAGTATGGGCATTTTTCAGCTTGGTAAAACTCTCAAATGGTTAAACAAACTTGA Y AGTTCTCGTAAAGCTTCCCCATAAACTTAATTTTGTGTTTGGGTTAGCAAATAATTGAAATGAGGTTTTGACTTTCTTTGGACTACACATGGGGGTCCAA Celera SNP ID: hCV30830397  Public SNP ID: rs10760139 SNP Chromosome Position: 122837512 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 126912 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,33|T,87)  SNP Type: INTRON Context (SEQ ID NO: 176): CCAGATTTTTGCACAAGCCATACTGAACTACTTCATGTTTCCATACTCATGTTTTGTTCCAGCCACACTGAATTACTTAACATTCAGCACATTGCCAAGC Y CTTTTCCCCCGCTTCCGGGGTTTGCACAAGTTGTTCCCTTTGCCAAGCAAATTCTTCCCCACCTCCCTACTCCTTGCCTAAACTCTTCTTTTGGGCGTAG Celera SNP ID: hCV30830427  Public SNP ID: rs10760142 SNP Chromosome Position: 122875375 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 164775 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,77|C,43)  SNP Type: INTRON Context (SEQ ID NO: 177): GGTGCCCAGAGCCAGGCTGGGGTGTTCTCTGTGTCTGATGTCATAGAACATCAACATCAGACAAAATGGATCCATACTAAAAACGACTACTCTATAATCA W GTTTGAGCAGGATATAAAAACAAGAACATTGTCCAAACCACAAAAATGACCACACACACCCTTTTCCTGGCTAAAGTGAGTAAGTGCTGCTACTTTTCCT Celera SNP ID: hCV30830913  Public SNP ID: rs10818489 SNP Chromosome Position: 122748485 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 37885 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,118|A,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 178): GTTTCCTTGTTCTTTTACAAGTGATTTTATACATTAAATTATAGTATTTTGGTACAGATGCACCAAAGCTATTTAAGCCATTTCCCTTTCTGTAGACATT Y AGGTTGTTCTCAGTCTTTGCTCTAATTGATTTAATTATTTTAAAGATTTTTTTTTTGATATTAATCGGAACTTGCCCCTCCACAACTAGGTGCCTTTTCC Celera SNP ID: hCV30830325  Public SNP ID: rs10818494 SNP Chromosome Position: 122786259 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 75659 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,38)  SNP Type: INTRON Context (SEQ ID NO: 179): AGATAAAAGATTGTTCCTATCCTGTGGCCTTGATGTTCACACCTAGGATGAGTAAGGCAAGACTGCTCTGGAAAATTGTTTGCAATAATGTCAGCAGAAG M AGCATCTGTGGTGAAAAAAAAAAAAAAAAGAAAGAGAAGCCAAGGACACAGTGGCTTTTGAGGCTTGATATAATTGCATGAGGCTAAAACCCTTGAAACT Celera SNP ID: hCV30830339  Public SNP ID: rs10818495 SNP Chromosome Position: 122797008 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 86408 Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,61|C,53)  SNP Type: INTRON Context (SEQ ID NO: 180): GCACTGTCCTCCCAACCTTGTGGGCAGTTGCAGATGGGACCTGCCCCAGGCTGCTTTACAGATGGGAACCTAAGTCAGATGGTGGTAGTGAGGAGAGGTT R GAGGATACTGGCCCATTGCAAGTGTGTGCCAGTGTTATTACTAGCAAGGGATCTTTTGTGATTTTTTTTTACGTTTTTGAAAATAAAAGAATAAATAGCT Celera SNP ID: hCV30830801  Public SNP ID: rs10985095 SNP Chromosome Position: 122738904 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 28304 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,118|G,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 181): GTTCTTACAAAATCCCAGTGATCTGGCCCCTCTCACTTCTCTGACCTCATTGTCCATCACTTGCTTTCTTCGATCCAGCCACGTCAGCCTTCTCGCTGTT Y CCTGGACCCCTGGGTCTTTACACGCACCAGCCTGGACCTTCATGTGGTTGTTCCTTCTTGTCAAGAAAATCTCAGCTTAAATGCCACCTTATTTAGTGAT Celera SNP ID: hCV30830887  Public SNP ID: rs10985097 SNP Chromosome Position: 122743715 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 33115 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,118|T,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 182): CTCATCTCTTGTTTTTTCTCCTAATTCAATGGATCCTCTATCTCTTTTCTCTAATAACTTCATCTTGGAATGCTCAAAATGTCTATCCTTGGTCTTCTTT Y TTTCCACTCCTCTGTCTGTATTCACATCCTTAGTGATCTTAACTAGTCTAATGGTTTTAGTATGCTGATGATTCTCAGATTTATGTTTTTCAGCCCAGAG Celera SNP ID: hCV30830915  Public SNP ID: rs10985105 SNP Chromosome Position: 122749983 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 39383 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,118|C,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 183): TTATGGAGTTCTTATGATTACTCTTTCTAGGATTACTGTTTCTTGCTTTTCCAACTCTTTTCTTTCTGCTTCAATTATTTTTAAAAGAAGACATGCTAAA R TCTCTGTTTTTTACAAGAAAAAAAACCAGGTATCACAAAATCTTTGAATTTTTTTTTCCTTCCAAAATAACTGCCAAATCTCTCAAAACACTTAGTCTAT Celera SNP ID: hCV30830419  Public SNP ID: rs10985140 SNP Chromosome Position: 122862658 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 152058 Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV11720413 (Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP: hCV2783604 (Power=.7) Related Interrogated SNP: hCV2783608 (Power=.7) Related Interrogated SNP: hCV2783638 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783582 (Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP: hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,63|A,57)  SNP Type: INTRON Context (SEQ ID NO: 184): GTATTGAAGACAGAGAGGGGCCACAAGCCAAAGAACACAGGTAGCCTCTAGAATCTGGAATAGGCAAAGAAATTCTAGAGCTTCCAGAAGGAATACAGCC Y TACCCAGCTCCTTGATTTTGGGACTTCTCACCTCTAGAATTGCAAGATAGTAAAACTGTGTTGGTTTAAACCATTACATTTGCAATAAATTGTTACCTAG Celera SNP ID: hCV30830938  Public SNP ID: rs12235400 SNP Chromosome Position: 122770510 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 59910 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,117|T,1)  SNP Type: INTRON Context (SEQ ID NO: 185): CAGTCTTTCATTATTTCTTTCCAATTTAAAGCACTCAAGACAATTTCGTACATGCAGCACTTTTCATAAATTAGGCTGTAAATTATATTTGTTATTTAAA Y CTGTAAACCTCAAATCCTTTTTGGAACAAACTATTTGTTTTAAAAAAAGTAATGCATATTTGGAAATCATATTTGAAGGTTAGTAAAAATTTTGATGTGT Celera SNP ID: hCV30830319  Public SNP ID: rs7037673 SNP Chromosome Position: 122780305 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 69705 Related Interrogated SNP: hCV11720413 (Power=.7) Related Interrogated SNP: hCV2783582 (Power=.7) Related Interrogated SNP: hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783638 (Power=.7) Related Interrogated SNP: hCV2783633 (Power=.7) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,79|T,41)  SNP Type: INTRON Context (SEQ ID NO: 186): CTTTAAAAGTACTATTATTTTTAATTGGTAAATCATACTTATATAAAATATTAAAATTATATAAAAATATTAAAATTACATAAAAATATTAATGTTAATA R CGTGAATACAATTAACAGACTGTGGGTAAATTGTACTTAACAAATTATACTTTTCTTCTTTTTTGGGACTGTTTATTTGTTTATACAATGGAAAGTTTTC Celera SNP ID: hCV30830342  Public SNP ID: rs7040319 SNP Chromosome Position: 122799073 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 88473 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,63|A,55)  SNP Type: INTRON Context (SEQ ID NO: 187): AGATAAAATCATACTCATATTTCTCAATTTCTTTCTAATAGTAATTTTCATAGCAAACAAGTATTTTCAATTATCTCCAAATATTTTCACATTAGTACAA Y TTTATTTTCCAATAAGAATGTGAAAATGGACATGCATTGCTCAAAAAGCAGACATAACTTCTGTTTAGAATTTTCTGTTTCTGTTAGAATTTTCACTTAC Celera SNP ID: hCV30830406  Public SNP ID: rs7040603 SNP Chromosome Position: 122848041 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 137441 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 188): AGATGAAGTGTAACAACACGTAAAAACAACAACAAACAAACAAACAAACAAACAATGATGTTTTTGATAAACTAAATGTGAATTTTGTTGGCTTTATAAA Y ACCAGAATCTAATTTTTATATATGTTCATTTAAAGCTTTCAAAAGCAAATATTCTATGAATTATATTTTTTAGCCAGATGTTTTATAAATGTATAGTATG Celera SNP ID: hCV30830396  Public SNP ID: rs10739584 SNP Chromosome Position: 122837364 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 126764 Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,32|T,82)  SNP Type: INTRON Context (SEQ ID NO: 189): TCTGGAGTCAGCCTGGTACCATACTCCAAGCGTACAGAATTCTTTGGAGACTGAGCCAGAGCGTAGGATGGCAATGTGAAGCAGCATGCTCTGAGGAAGA Y GTGAAGGCGCTGGGGCTTTTAGCCTGAAAAGGGAAGCACTCAGGTAGGACAGAATCTGACCCTCCATCCCTGAAGGGCTGTCATGGGGACTAGAAGGTGG Celera SNP ID: hCV30830577  Public SNP ID: rs6478488 SNP Chromosome Position: 122714954 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 4354 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,116|T,2)  SNP Type: INTRON Context (SEQ ID NO: 190): ACAGCAGTGGTTCTTTGCCTTCCTTGGTTTGTACATGCATTACTCCAATTTCTACCTCTGTCTGCATGCGACCGTCCTCTCCCAGTGTCTGCATCTTCAC S TGAGGTTTTCTCTGCGTATCCCTGTGTCTACATTTCCCTCTTCTCATAAGGACACCTGTCATTTTAGATTAAGAGCCACCCTATTCCAGTGTGACTTCAT Celera SNP ID: hCV30830870  Public SNP ID: rs7027145 SNP Chromosome Position: 122743040 SNP in Genomic Sequence: SEQ ID NO: 78  SNP Position Genomic: 32440 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,118|C,2) SNP Type: INTERGENIC;UNKNOWN  Gene Number: 2 Gene Symbol: CEP110 - 11064  Gene Name: centrosomal protein 110kDa Chromosome: 9  OMIM NUMBER: 605496  OMIM Information: Genomic Sequence (SEQ ID NO: 79):  SNP Information Context (SEQ ID NO: 191): CTTGAGTAGAGTTATTACTCCTAGTCAAGGAGAGCTGCATCAAGGGATTCTCCAGGAGAGCAGTAAGGGTATATTATTTTCTGATGACTGATCAAACAGA Y CCTGATGCACATAAGTAAATGTTGTACTTTATGTCAAGTCATCTGTTGTGTAAAGTATTCATTCATTTGTTTCCAATTAGTATATTGAGAATTTGGAAAA Celera SNP ID: hCV1632190  Public SNP ID: rs10760146 SNP Chromosome Position: 122896906 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 62236 SNP Source: Applera Population(Allele,Count): Caucasian (C,24|T,16) African American (C,28|T,10) total (C,52|T,26) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,76|T,44)  SNP Type: INTRON Context (SEQ ID NO: 192): CCCCTCCTCACATGCTGGCCAGATAGCTTCCCAAGCCCTCTTGATCACCTCTGTAATGGAATTGTCCCTGTGGGCTGTCTTCTACTTTCTTTTGACCTGG M ATCTGTCTCATGTCCATGCAGGTTCTCTGGGACACTATTTGTTGTTTAATGACTAATCAAGATTATTCTTTATTAAGATGTTTCAGAGACTCCAGAAAGA Celera SNP ID: hCV3045803  Public SNP ID: rs2146836 SNP Chromosome Position: 122970117 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 135447 SNP Source: Applera Population(Allele,Count): Caucasian (A,13|C,27) African American (A,23|C,13) total (A,36|C,40) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,51|C,69) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 193): CAAATGTAATATTCTAGTAGTATACTGAGGGTATGCAGACCATTGGTTTAAATAACAAAGAAATCAAGTAGGCTGGTTCCTCTTCACAACAGCAGATACC R TAGGGCCATTTATGTAACATAACCATCACATAAATAAAAGTTTTGATGGAGAGCAGTGGTTTGCTAATTTATTTTAGCCTTAGAACTCTTGATACAAACA Celera SNP ID: hCV7577271  Public SNP ID: rs1535655 SNP Chromosome Position: 122968390 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 133720 SNP Source: Applera Population(Allele,Count): Caucasian (A,27|G,13) African American (A,16|G,16) total (A,43|G,29) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,48|A,72)  SNP Type: INTRON Context (SEQ ID NO: 194): TAGCACTATCTTTTGGAAGAAAGGAGGGGAATGAGAGGGAGAGGTATGGCAAAAGTGAGGTAGAGGGAATGACAGTGAGGGAAATCTTGTTGGATAGTCT K GAGCTTCTTAGTATATAGACAATGTTGTTGTCAACTGAAGGGCAAAGAGAGTTTGGTAGCTTGAGTAGAGTTATTACTCCTAGTCAAGGAGAGCTGCATC Celera SNP ID: hCV1632189  Public SNP ID: rs12685539 SNP Chromosome Position: 122896746 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 62076 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,118|G,2)  SNP Type: INTRON Context (SEQ ID NO: 195): CAGTAAATGTTAGCCACTAGTATGATATTCTTTAGAATTAACTTCAATCATCATCTTTTCATTAAATTTTTGGAAGTAGACAAAATTCATATGGAGTCAA R TTTACTGAGTAAGGTTAGTGATCAAACTGGGAAAATAAAAACAAAGTGTACCTGAAGCGATGGACCCGATTTTCTTGTGAGACTTAAGAATTAGTTTGAA Celera SNP ID: hCV3045792  Public SNP ID: rs6478499 SNP Chromosome Position: 122882694 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 48024 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,47|G,71)  SNP Type: INTRON Context (SEQ ID NO: 196): GTTTTCCTTGATTTAGAAGCAAAGGCAAGTTATTTTATAACAGGCAGGTAAATAATGCCACATTCCTAGAGTATGGTGTGTTGCCAGAATCTGGTATTTT W TGATGTGATGATTTTAATGAAGAGGCAAACATTCCAATGACTCCTAGAGATCGTTCAAGATAAAACCATTCCTGACAACTCATTAGTAAAAAATTAAGTT Celera SNP ID: hCV3045796  Public SNP ID: rs2068055 SNP Chromosome Position: 122943988 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 109318 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,109|T,11)  SNP Type: INTRON Context (SEQ ID NO: 197): TCTAAAATGTATCTGGAATATATGTCCTTTTTCCTTCTCTGATGCTAGACCCTTGTGCTGTCATCATCTCTCTTCTGGATGACTACTGTGGCTGTCTGAT S GATCTGTCACTTCTACTCATGACCCTGCTCCCCAGAGCAGCCAAGATGCTCTTTCTGAAATGTCAAGTGGCTGTAATCAGTCTCCCCTCCTGTAGCTTCC Celera SNP ID: hCV3045797  Public SNP ID: rs7036541 SNP Chromosome Position: 122945456 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 110786 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,73|G,43)  SNP Type: INTRON Context (SEQ ID NO: 198): TTTTCATCTCGTGCAGTCATGTGAAAATGTTACTTCATAGTATGACTCCTTACTGAGCTAATGTCTGTTACTGTGCTTTATAGGATGCAAATGCTAATGA K ATTAAGATAGCAGATCATAGGAGACAAAAATCTAATGATGAGAGCCCAGAGAGACATAATCATGGAAGACGGTAGTAAAAGTAAAAAAGTAAAAAAATTA Celera SNP ID: hCV3045798  Public SNP ID: rs12683062 SNP Chromosome Position: 122946625 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 111955 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,105|T,15)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 199): TCTTTTTAGTAGTTAGGCTACAAGTATCTGTATTGTCTACATTTAACATTTTTTAATGGGTGTATATATTATTTTTTAGGGACTTCATTGATGGAAATGT W GAGAGTCTTATGACTGAACTAGAAATAGAAAAATCACTCAAACATCATGAAGATATTGTAGATGAAATTGAGTGCATTGAGAAGACTCTTCTGAAACGTC Celera SNP ID: hCV3045800  Public SNP ID: rs3736855 SNP Chromosome Position: 122956841 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 122171 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,76|A,44) SNP Type: ESS;SILENT MUTATION  Context (SEQ ID NO: 200): AAGTCCAAACTGTATGACTCCCTTTATGTACTACAATACATGCTCATGCATGTCTGCTATATGGACAGATCCTACTGTACACACAATTGTTTTCTACTCT Y TCGATTGTCACAGCTCCATTTTTATCAGATTTTTGGAATTCTGAATGTTATCCATGTTTTTAATCCATGATTTTTATAAAACTTCAATTTAGTGAGTCAG Celera SNP ID: hCV3045802  Public SNP ID: rs2057466 SNP Chromosome Position: 122966751 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 132081 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,51|C,69)  SNP Type: INTRON Context (SEQ ID NO: 201): TATCATATGATATTTCATTTTTAAAAATTCAATTATTAAAATATATTATACTGATGGCTACACACCATGTATCTGAAAAAAATATTAGACTGAGATTTTA Y TTATATGAGCCAAGAAACCAAAATAAAACACCCATATTTCTAATTTGAGAGATCAAGCAGTGCTAAAAATCACATAACTGTAGGCAGTTCTTTAATCAAT Celera SNP ID: hCV7577296  Public SNP ID: rs1407910 SNP Chromosome Position: 122915251 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 80581 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,47|C,73)  SNP Type: INTRON Context (SEQ ID NO: 202): GGAATATTATCCCATTAATGAATCTTGAGATATTTCTTTGTAAGAAGAATTATATCACTGCTTCTCATGAATCTCACCAGCATTGACCTATGACCCCCAT S TCTTCCATTTCAGTTCTTTTAAATTTTACTTATTCACTTTGTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTAAATTATTCTTTTTTCCTTTTCCTACT Celera SNP ID: hCV7577317  Public SNP ID: rs1323472 SNP Chromosome Position: 122866156 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 31486 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,62|G,58)  SNP Type: INTRON Context (SEQ ID NO: 203): TGTAGCAAAAACCTAAAGCAATGCTTTGTATAAGCTGCAACAGAGCATTCTCCTCAGGCCTGGGCCGAAGGCTAGCCTCTGACTTTTCCTGACATGCCCC R TGCCCCACAATCTAATTCAAGGGATCTTAATACCTTCTGGCAAGTCACATAAAGGAATAAGTCAAGGCAGGGGGACACTTTAGAGACCCTGCCAATGACA Celera SNP ID: hCV11720383  Public SNP ID: rs1951784 SNP Chromosome Position: 122916272 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 81602 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,76|G,44)  SNP Type: INTRON Context (SEQ ID NO: 204): TATAATGGGGAAGATGTGGTTTAACAGAAATATGTGGAAAGGCTTATGAATTGTAGTTGACTGTGTGCTAGATGATATGGCTTCCCAAAAGACTAATGCT R TCTTGAGCTGCATTATGTACTCCTAGATATTTGTATTTTTTAAAAACAACATTGTAGGTGAGGCTGTTCATTGGCAAAAACATTTAGAAGGCGATCTGGC Celera SNP ID: hCV11720386  Public SNP ID: rs1998506 SNP Chromosome Position: 122910284 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 75614 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,50|A,70) SNP Type: MICRORNA;UTR3;INTRON  Context (SEQ ID NO: 205): TTAGCTGTTTTTCTAAAAATATAACTTTCATCAAAGCTCCTTACATTCACTACCACCACCCAAATAGGTCCTTGCTCCTCGGTCATCAATGCTTATAATT W GCAAGTGTACTTTAAGTTCCTGAAGAGCAGCAGCTTCAGGAGCCTACTTTGAAAGCGCCACCTGCTGGTATTAACTTAATAGCTTCCCAAAGAAAGCTGG Celera SNP ID: hCV11720394  Public SNP ID: rs1924081 SNP Chromosome Position: 122862268 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 27598 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,33|T,87)  SNP Type: INTRON Context (SEQ ID NO: 206): TTTGGCAGTAATTTGATGGCAGCATGTCCAGGGGATTCAAGAATGAGTAAATCCCCTCCTTCAAATAAGCACTGGAACTATATATTCGAAGTCACAATTA R TAATAACTGAAGCAAGTAAAGAACCACTTGATTGATTACTATGCATGTAGCAAAAACCTAAAGCAATGCTTTGTATAAGCTGCAACAGAGCATTCTCCTC Celera SNP ID: hCV15751719  Public SNP ID: rs2146838 SNP Chromosome Position: 122916126 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 81456 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,65|A,55)  SNP Type: INTRON Context (SEQ ID NO: 207): TGTTCTTTAACCTATGTAATGCTGCTTTACCTCAGCTAGAACCGATAGAATCTAAGTATTTGGGAGAGGAAGTAGAAACACAGTGATGAACTGTAAGGTT W TCATAGGCCAGTGGTGGCAGGAAAGATTTGGGATACTGGAAAAGTAGGCTGAATGTCAGGTAAGGAATTGTTTGGCTCAGAACATGTTGACTTTGAAGGC Celera SNP ID: hCV15757738  Public SNP ID: rs2302498 SNP Chromosome Position: 122976150 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 141480 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,63|T,57)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 208): ATAGTGCGTATCCAGTACTGTACATGGGATGTGTGTGTTTGTGTTCTAAGTGTTTAGGTTACACATTTATGTTGCCAGTCTTGGATTCATCTTATATACT R GGTGGTCTTGTTCTTTGTATTTAGCAGCAAGAACTCACAGTTTTGGTACATATTTTTTATTTTATTTGTAAATTAAACTTTTTTTTTTTTTTTGAGACGG Celera SNP ID: hCV15849105  Public SNP ID: rs2900185 SNP Chromosome Position: 122927191 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 92521 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (A,47|G,73)  SNP Type: INTRON Context (SEQ ID NO: 209): TGTATTACAGAGGTATAGATCTATGATTCTATACTCATTGCAGATGTTCAATAACCATTTATGGAACATTGAATGATTTAGTGTAGTGTGAGGACAGGGT W ATGAAATGAGATTCTTGTCCTGAAAAATGAATTAAAGTATTATTTAAATAAATAAAATACTTACTATGAAAGTTAAGACAGTTTCTCTTTTGGCTGGCTT Celera SNP ID: hCV26144282  Public SNP ID: rs10818499 SNP Chromosome Position: 122839915 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 5245 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,76|A,44)  SNP Type: INTRON Context (SEQ ID NO: 210): TCTTGCACATTGTAATTTGTAACAATTTCTTTCTATTCAGCATTTTTCTATAATCTCTTAAACGGGTTCTTTTACTCTCCAAACTTACCTGGCTGTTTAT R TAGTTTCTCAGGTGCACTTTTATACTTCCCTTCGTTTGCATGTGTTACTTCTTCAGCCTAGGTCTTTCCCCTTCCGTTCGTTCTTCAAAACCCAGGCAAA Celera SNP ID: hCV27476319  Public SNP ID: rs3747843 SNP Chromosome Position: 122954127 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 119457 SNP Source: Applera Population(Allele,Count): Caucasian (A,15|G,19) African American (A,23|G,9) total (A,38|G,28) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,75|G,45)  SNP Type: INTRON Context (SEQ ID NO: 211): TGTACTGTTTTTAGACTAAATGTACTTATAAGAACAACTGTGTATCATGAAAATCATTTTTGCATACACCTAACCTTGCAAATGTAGGACTCTTGATGTT R AGGACTAGTATTGCTCATGCAGACATTTTTTGTTGAGATACTAACTAGTACATTTTACATTTTATGTTATTTATGATTAACTCATTCAATAAATGTTAAT Celera SNP ID: hCV27912350  Public SNP ID: rs4837808 SNP Chromosome Position: 122886441 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 51771 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,47|G,73)  SNP Type: INTRON Context (SEQ ID NO: 212): TTTCCAGTTCATTTGACATCTATTTTGCTTTTATTCATGCATTTCTTCAACAGATATTTATTGAGTGCTTACAATATGCTAAGCCTGGGGCTTATAAAAG K CACAAAAGTACTTTGAAATGCACAGCCTATTTATTATTATTTGCCTGCAGAGACCAGTTCATGTATTCTCTGTGATTCCAGTCACATTTGCCTGTTGTTT Celera SNP ID: hCV27912351  Public SNP ID: rs4837809 SNP Chromosome Position: 122913032 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 78362 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,47|G,73)  SNP Type: INTRON Context (SEQ ID NO: 213): TCTTTAAAATATCTGTTGAATGCATGTCGTGAACGCCGTGCTCATGGGCAAGCCCCAGATGAAGCCTGTGCAAGTGCTTCTTGCTTTAACTCCCTTGTAG Y AATCAGAGGAACATCCTCTGCCTAGGATTCCCAAGCTCCCTGAACCTCACGCGACAGCTGGAGCCCAGGCTGCGTCCGCTTTGAGGTTCATCCGAGCCTG Celera SNP ID: hCV29005933  Public SNP ID: rs7042135 SNP Chromosome Position: 122876474 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 41804 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43)  SNP Type: INTRON Context (SEQ ID NO: 214): GAAATGCTAAAAGAAGGGGAAGAACAAACACTTCCGTTATATTCGTTAAGGGACTAGAGAATTTTGAAGCCAGACAAACTTGGGTTGAAGCCTCAATTCT R CCACCTTGTGTAACTTAACCAGGTCTGTGACCCTGGATATGTGTCTGAGCCTTCCTGATCATGTTTCCTCATTTGTCCAAATAATTGCGAATCATTTTTG Celera SNP ID: hCV29005936  Public SNP ID: rs6478498 SNP Chromosome Position: 122877723 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 43053 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,77|A,43)  SNP Type: INTRON Context (SEQ ID NO: 215): AGGAATCGGAATCAGGATATTTGAAAGGAGGAGAAGATTAAGGAGTAAAAGTATTTCAGTAGGTCAGAGGGTATGGGATGAAGTAGACTTGGAAAGTACT S AAATCCAATTAAAGGGCTAAGGAGAGGGATATGGGGGTTAATAAATGGGGATGGGTATTTGCATATTAGGGAGTCTGTAGAGAGACAGAAGGAGGTCTGC Celera SNP ID: hCV29005938  Public SNP ID: rs7856420 SNP Chromosome Position: 122878978 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 44308 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|C,70)  SNP Type: INTRON Context (SEQ ID NO: 216): TAACAGGATAAATTTTAAGTTAAGGTATGATATTTTTTCTCTCTCTGTACAAAGGACTTAAAAGGAGGAGGAGTCAGAGATGTAAGTTCCTGTTTTTACA R TAACTCTTTTGTGAGCTCCACCGTGGTGTAAATCGCAGAATCTACTTTTGTTCCCATGTATTTAATGTACACCATTGGCATATTGAACCAGATTTTTATC Celera SNP ID: hCV30293181  Public SNP ID: rs10081760 SNP Chromosome Position: 122924127 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 89457 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,50|G,70)  SNP Type: INTRON Context (SEQ ID NO: 217): AATGATGCTGGTACTATCATTATTCGTACTTTGCAAGTGGTAAAAGGCTAACTTGGCTAAGGTTATACGGTTTGTAAGTAAATGGGGGAGGCCTTTATAT S AGTTCTCAGTTGTTATGTGTACAGTTGAGGTCAAGTTTATATGTTATTCACAACCATAGACTGTTCTCTTATTTTTACTTTTCATGTGATTTATACAATA Celera SNP ID: hCV30830407  Public SNP ID: rs10739585 SNP Chromosome Position: 122849360 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 14690 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 218): GGAATGGGGCATTTGGCTATATTGTAATGTATGTGAAATAATAATCAACTTTTTAAAAACAAAAAAAGACGGGGTTTTTATTCCTTTCAAACTACTCACC W TGAGAGACCGGATCATGATATCAGAGATCCTTTCTTTGTATAAAATTTTCTGGGTTTCCTTCAGGATTTTTTTTGTTTTGTTTTTTTGAGATGAAGTCTC Celera SNP ID: hCV30830435  Public SNP ID: rs10739586 SNP Chromosome Position: 122881893 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 47223 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,50|A,70)  SNP Type: INTRON Context (SEQ ID NO: 219): AAGCTCTCTGCTTTCTTTGGGCCAGCACTTCCACTGGTTGTTCCTGGAGAAAAAAGTCACCATCCAGTATTGTGGTGTCATTATAAACTCATAGTTACCA R TCTCAAATAGACAATATGACCCTTTTCTGTGGTGAGCTTCCTCTCCCATGCCTCACTGTTTCACACCTTCTCATTCCTCACACCTGCTGTCTGCTTTCTC Celera SNP ID: hCV30830506  Public SNP ID: rs10760151 SNP Chromosome Position: 122945183 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 110513 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,76|G,44)  SNP Type: INTRON Context (SEQ ID NO: 220): TCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAGTATGTAAACTTTTGAGATTGGCTTTTTTACTGGGTATGATGCCCTTGAGA M CCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAGTAGTACTCCACTATAGAGATGTTCCGAACTGTTTAACCATTCACCTGTCA Celera SNP ID: hCV30830538  Public SNP ID: rs10760152 SNP Chromosome Position: 122987806 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 153136 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,47|C,71)  SNP Type: INTRON Context (SEQ ID NO: 221): ATTTCCTGATAAAAGCTCATCTTACCACTGATAACACAGTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTATAAAGCCAAGTGAGACACAAGCCTTG Y TCCTGAGAAACTCAAGTCACAGCTCAGTGTGTCTTTCCTCACATTGTTCCTGGCATACCCTCAACAATATCTACTGAAACTTCACTCACCCCTCAAGGAC Celera SNP ID: hCV30830539  Public SNP ID: rs10760153 SNP Chromosome Position: 122988196 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 153526 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,44)  SNP Type: INTRON Context (SEQ ID NO: 222): TTAGTAGCTGGATTATGTGTTTGCTTTCAACAAATGACTGTTATATTTCTGGCGGACAGAGAGTTCAATTCCCACTGGATTTCTGTAGAGAATTATACAT R GAAAGGAGGTAAATGAGACATGGGAATGGCATCCAAGTTTTGAAGTTAGCTAAAATCAACCTGTGCAGTGGGGATGAAACATACAAACCAGATTTGAATT Celera SNP ID: hCV30830484  Public SNP ID: rs10818508 SNP Chromosome Position: 122922855 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 88185 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,47|A,73)  SNP Type: INTRON Context (SEQ ID NO: 223): AAGGATTAGAAAGAGAATGTGTGTGATAAGAGGACAGTTGTCCAAGTCAGACAGCCAGGTTCCAGGCTGGACTCTGCTAGTTAAGAAGATGTGAGAATTT R TGCAAGTCATATAAGTCCCCTGGCTTTGCTTTTCTTATCTATAAATTCAGGCTAAGAATACGTAGGCTTTTCGGCATGGATTAAATAAAACAGCGTATTT Celera SNP ID: hCV30830512  Public SNP ID: rs10818512 SNP Chromosome Position: 122957176 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 122506 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,48|G,72)  SNP Type: INTRON Context (SEQ ID NO: 224): AGAAAAGAATAAATGCGGCTATGTATTATAGTTGTTAAGCATGAAGTCTGAACTAAATTTGAATCCCAACTCAATACAATACTTCTGAATAAAAAAAGTG R GTCTCAAAACATGGTATACTCTATGAGATCATTTCTGTTAAATGCCTTTATCAACACTTATGGTTGTATTTTTAGTCAATACCAAAGTACAAAAGTGGTC Celera SNP ID: hCV30830514  Public SNP ID: rs3736856 SNP Chromosome Position: 122960384 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 125714 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,59|A,61)  SNP Type: INTRON Context (SEQ ID NO: 225): AACAAACTGCAGGAAAAACAGGTGGATAGGATTTTTCAGATAATTAAACTCTCGAAGAAGACAGATGTCTGAACAAACAAGTACCTGAATCATCACTCAG K TCTCCAAATCTGTGAGGTTGCGGGCCTCTTGGCTGGCTGAGATGGTAGCTGTTATCACCAGAAATAAAAGGGCAGAGTTTATGTGGCTTGGAGGAAGGGT Celera SNP ID: hCV30830503  Public SNP ID: rs4837811 SNP Chromosome Position: 122941415 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 106745 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,47|G,73)  SNP Type: INTRON Context (SEQ ID NO: 226): AAGGGACCTGTTAGGAGGCTAGCGTAGCAATCTAGGCTGGAGTCTATGCCATACCATCTGAATACATTCACAAGATCTTGAAAGCTAAGCAGAGTCAGCC S TGGTTAACACTTGGATAGGAGTGATCCAGGTTGGAAACGTTTATGGCCTGTAGTTAACATGCTGGATGTGGAAATGAAAGATAGATGGATCAGTTTTGAA Celera SNP ID: hCV30167357  Public SNP ID: rs7022941 SNP Chromosome Position: 122907291 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 72621 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,75|G,43)  SNP Type: INTRON Context (SEQ ID NO: 227): CCTCTTAAGACTGTTCCCAAGACCATGATCACTCATATTGGCTCAAAATATTCCACTCTGAAATATTTCACAGATTTTTTTTCCTCTGTTAGCAAGTCCT Y GGGCAAGGTCTAGTGCTGTCCTGGTCTTGGAGGCAGTGGACTTAGGGTGCAACACAGTTTAACACTAGCTGTGGCAGCCACAGGAGTATGTATGTCACTC Celera SNP ID: hCV30830417  Public SNP ID: rs7029523 SNP Chromosome Position: 122857434 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 22764 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 228): CTAAAAGGCACTTCAGCCATTAACTTTTTTTCATGTAAAATTACAGCTCCTGGCTCTTCCACTTTCAAAAATGTGTGTCCATAAACCAAATAATCATTTT K ATCTGAATGTAAACCTCATGCAAGGACAGTTAAGTAGTACAACAAAAGTGAGCATTCTTTAAACAGTGTGGACAAAGTGCCCACTGTGAAGGGGAAGAAA Celera SNP ID: hCV30830536  Public SNP ID: rs7047038 SNP Chromosome Position: 122986768 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 152098 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|G,72)  SNP Type: INTRON Context (SEQ ID NO: 229): GTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTGCACTGGAAGTCAGTGCTGCCCCGTCATGGTGGAACATAACACAGGACAGAATTCTGCAGG Y GCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGACAGAGGAGAATTCTGTGCTCCAGAGGGAGAAACCCAGGTCATGGCTAGCTTCACCACTGGC Celera SNP ID: hCV30830415  Public SNP ID: rs7855998 SNP Chromosome Position: 122855917 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 21247 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,77|T,43)  SNP Type: INTRON Context (SEQ ID NO: 230): AACCACAGGCTGCACAGCAGGAAAGAGAATCCGTGTGCTTGGAGGAGAGAGAGCAAAGTGAGTGTGGGACTTTGCACTGGAAGTCAGTGCTGCCCCGTCA Y GGTGGAACATAACACAGGACAGAATTCTGCAGGCGCCTAGAATTCTGACAGTGCATTTAGGCAGGCCTTGGGACAGAGGAGAATTCTGTGCTCCAGAGGG Celera SNP ID: hCV30830414  Public SNP ID: rs7871371 SNP Chromosome Position: 122855883 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 21213 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,85) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 231): GACAGGAATGTAGCAGATAGGACAGGGTGCTATTGAGTTTCCCAGGTCTCCACTGGCTGTTTGCTAGTACTGTTCACAGTAGTCGGTGAGAATGCCATGG W CACATTTTTCTTTTCTATGTTATGGAGTTGCAAAGTCTAATAATAAGATTGATAGGATTCCTGGGCATAGTAATAAAAAGTTGGCAGTTTAGCTGTTCTG Celera SNP ID: hCV30563729  Public SNP ID: rs9299273 SNP Chromosome Position: 122898251 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 63581 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,47|A,73)  SNP Type: INTRON Context (SEQ ID NO: 232): AGCAGTGATTGAATTCCAGCTGTGGCATCTGCTGGCTGAGTGACCGTGGTAAAGTCACTAAGTCTTTCTGAGGCTAAAATAACTTACTGTGAAAATAATC R CCTTCTTTACCAGGCTCTGGTAAAGATTAAATAAGAACATATATATGAAAAGGTCTAGCACTCTTAGTACTCAATACATGTTAAGATTTATTAATCTCAC Celera SNP ID: hCV30527383  Public SNP ID: rs9644911 SNP Chromosome Position: 122848925 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 14255 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,31|A,83)  SNP Type: INTRON Context (SEQ ID NO: 233): TTGTTAAATCAGTATAATGAAAAGACAAAGTTGAGAGTTACACAAACTTGAATTCAAATCCTGTTTCATTCACTTACAAGGCTTTGAGCTTTGGGCAAGT Y GCCTAACTTCTTTGATCCTGAATTTCTTCATCTGTAAAATTAAGATGATACTTACATGATAAGTTGTTGTGAGGAGTCACAAATGAAATAGTGTATGGAA Celera SNP ID: hCV29824827  Public SNP ID: rs9657673 SNP Chromosome Position: 122900196 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 65526 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,73|T,41)  SNP Type: INTRON Context (SEQ ID NO: 234): GATAAGTGTCATGAAGAAAATAAACAAGATGCTGAGATAGGGAGTAAAACAAAGCAAGAGATTACATTACATCATGCATCCAGGAATAGCCTTTTTGTAG Y AGCTTCTACTCTGGGTCATAACAATGAAAAGAAGCCAGGCTTATGAAGAGCCAGGTGAAGCCCATTCCAAGTAGAGGGGATGACATGTGCAAAGGCACGG Celera SNP ID: hCV30830395  Public SNP ID: rs10985132 SNP Chromosome Position: 122835515 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 845 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 235): TATTACAGGAAGAACAGATTGACCAAGCTTGTCTGAGATGCCAAACTCAACCTCACTTGTGAAAAGTCAAACACTGTCATTTGGGAAAAGTCAAACACTT Y TGAAATGTAAACAAAGTTTCATTTATTAACCTGGGTTACCAACAGGCATAATCAAGGTACAATCTTTTAAGTAACAAAAATTCATATTATTTTGAAATGT Celera SNP ID: hCV15751717  Public SNP ID: rs2296077 SNP Chromosome Position: 122984764 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 150094 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,21|T,15) African American (C,9|T,27) total (C,30|T,42) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,63|C,55)  SNP Type: INTRON Context (SEQ ID NO: 236): TTCCATCCTGAATGTTCTGATAGATTTTCTTGGCAGCCTCAAGGAAGGCATCTTCTACATTCTCTCCCCTAAGAGGCAATTGATAACTTTATTGGAGAAC Y ACAGTTTTCTACAAAAGACAAGACACTGACCTTTTGCTAATCTTTAGTTAACTGCCATGATGTCTCCAACTTAACCACTGTCATCTAATAAGAGATTACC Celera SNP ID: hCV15751718  Public SNP ID: rs2296078 SNP Chromosome Position: 122983705 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 149035 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,23|T,15) African American (C,29|T,9) total (C,52|T,24) SNP Type: INTRON;PSEUDOGENE SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,75|T,45) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 237): TTTAACTGATTATACAATCTTTGATGTACAAAATATTTATAGATCAAATATTTGAAGACAAATACCCATGTCTTCAAATTAAATATGAAGGATGAAGATC W GTTAAATGTTATAGAAGGGAAATATGGTTCATTTCAGCCATTTCCCTTCTTCTTTTTCCAATCTTCCCCATCTCTCCTCATTATCTTGAAGAGACTCAAC Celera SNP ID: hCV25472748  Public SNP ID: rs10760138 SNP Chromosome Position: 122837145 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 2475 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,8|T,2) African American (A,20|T,10) total (A,28|T,12) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,32|A,86)  SNP Type: INTRON Context (SEQ ID NO: 238): TTTTGACTTACCAAAGGGCAGACTGAAAGTCAGCTTTGAGGAACTGATAAAATTAATTGGCTCTCTTAGAATCTCTTTTATATTTTGAGAAAGGAAGTAA R TGATTTCATATCAATTTCATAGAATGACTTTTCTTTACAGACAACAAAGGAGGCTTTGAAAATGTTTTAGAAGAAATTGCTGAACTTCGACGTGAAGTTT Celera SNP ID: hCV25746749  Public SNP ID: rs7023214 SNP Chromosome Position: 122948166 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 113496 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,27|G,11) African American (A,13|G,25) total (A,40|G,36) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|A,70)  SNP Type: INTRON Context (SEQ ID NO: 239): GAGATTGACAGAAGTCGAGCAGGAGAGAGACCAGCTGGAAATAGTTGCCATGGATGCAGAAAATATGAGGAAGGTATGATTTTTTTCCTGCCTATTTTCC K TAGCTTCATAAGTAGATAATGTCCAAATTAAGTTAGTTGGAGGAGGTAACAGTACATTTTTAAGTGGGAAAAAGTATTAGTGGCTATATGGTGATTTTTT Celera SNP ID: hCV25771057  Public SNP ID: rs10760150 SNP Chromosome Position: 122928063 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 93393 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (G,10|T,24) African American (G,15|T,11) total (G,25|T,35) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,47|T,73)  SNP Type: INTRON Context (SEQ ID NO: 240): AAGTCTAATAATAAGATTGATAGGATTCCTGGGCATAGTAATAAAAAGTTGGCAGTTTAGCTGTTCTGGTAAATTTGGCTTTAGCCACTTTTCTTTGTTC K CATTTATGAAAAGAGTTGATAAATTATCATTATGAAAAGTAATCTAACATGGAGCTAAAGCTGTTTATTCTAAAAATACAATGGAGAGACTCTATAATTG Celera SNP ID: hCV25965958  Public SNP ID: rs10985153 SNP Chromosome Position: 122898384 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 63714 Related Interrogated SNP: hCV25763321 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (G,0|T,36) African American (G,5|T,29) total (G,5|T,65) SNP Type: TFBS SYNONYMOUS;INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,115|G,1) SNP Type: TFBS SYNONYMOUS;INTRON  Context (SEQ ID NO: 241): TGATTTGTAACTTCCTTTAAGTATGTTATGATTTTTAAATTAAATTATACCAATACTAATGTTATATCATTTCAGCTCCAAGATATAAGCAAGTTGAAAC Y GCTTCAAGATTTGATTTCTCTGATCCTAGTTGAAAATCCAGTTGTGACCCTTCCTCATTACCTCCAGTTTACCATTTTCCACCTCCGTTCATTGGAAAGT Celera SNP ID: hCV25968825  Public SNP ID: rs10818504 SNP Chromosome Position: 122900510 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 65840 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,22|T,16) African American (C,27|T,11) total (C,49|T,27) SNP Type: MISSENSE MUTATION  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,76|T,44) SNP Type: MISSENSE MUTATION  Context (SEQ ID NO: 242): TATCCCATCATCTATGTCCAATATGAGATCTAGGTCACTTTCACCTTTGATTGGATCAGAGACTCTACCTTTTCATTCTGGAGGACAGTGGTGTGAGCAA R TTGAGATTGCAGATGAAAACAATATGCTTTTGGACTATCAAGACCATAAAGGTATCACTTTTTAATCTAAGAATTGGTCTGACCACATACTTCAAGTAGA Celera SNP ID: hCV25969661  Public SNP ID: rs10818503 SNP Chromosome Position: 122890591 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 55921 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,28|G,12) African American (A,11|G,25) total (A,39|G,37) SNP Type: MISSENSE MUTATION;ESE  SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,50|A,70) SNP Type: MISSENSE MUTATION;ESE  Context (SEQ ID NO: 243): AGGCAGGTTCATCCATGCCGTGGTGGTAGTGCTAGGAAATGTTTTTCCAATGAATGGATGAAGTTATGACCACTAAGATTCTTGACTAAGAAGACCTAGT M CAAGTTTCTCACAGTTTTGAGATCTATTATTTATTCATTGGATATATGTGGAGTACCTCCTGTGTATCAAGTATTGTTCTAGGCAGCAGTGAACAGAGTC Celera SNP ID: hCV7577286  Public SNP ID: rs1407912 SNP Chromosome Position: 122945822 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 111152 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,11|C,29) African American (A,25|C,13) total (A,36|C,42) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,50|C,70)  SNP Type: INTRON Context (SEQ ID NO: 244): AGCTTTGGAGTAGCTAAGTCAGGAGTAAACTCATATCTGACTTCAAAGACAAATCTCTTAACACTTCACAAGGAATCTCCTCTAATAACACAAGGCAAGG Y ATTGGCAGAGTAAACAAAGAATGTCAAGAACATGAGAAAATTTTAAGACAACTAGATAACATCAAGCTGCTTCCCTTGGGTTCTGTGATCATTAGTGCTA Celera SNP ID: hCV782872  Public SNP ID: rs758958 SNP Chromosome Position: 122864670 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 30000 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 245): AATTTGTACATATGGTAGAAAAAAATGGAATCTTGTTTTAATTTTGAATTTTTATAGTTGTTGGACAGTTGAGTATTGCATATATATTTATTGGCTATTT Y GTATTTCCTCTTTAAATTGCCAGTTCATATTGGTTTTGCCTATTATCTGTTAGTCCCAAGGACTATTAGATGCCTAAAATAATTCTGGGTCTTATTCTAA Celera SNP ID: hCV26144307  Public SNP ID: rs1016468 SNP Chromosome Position: 122911977 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 77307 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,65|C,55)  SNP Type: INTRON Context (SEQ ID NO: 246): ATAATTGCCAAAAGATACTCTTAAAGTATATTACCTATGAGCTTTGGGAATAATGATCTACTTCATCTCAAGTGTCAAAAAAATCATATTAACAGTTCTT Y TGTCCAGATTTGGCATAGTGAATGGTACCAGAATACAGGTGTTTGCTTTTAGGTCAGTTTGTTCTCTCTTGAACCATATATAAATGAAGTTGACGTGGGA Celera SNP ID: hCV782875  Public SNP ID: rs746182 SNP Chromosome Position: 122970786 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 136116 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,62|C,58) SNP Type: INTRONIC INDEL;INTRON  Context (SEQ ID NO: 247): AGGGCCTGGGCAGGCTTCTCAAAATTTTTTTTTAAAACTTAAGACCTGTAGGATGCAAAATAGCCCAGTAGGAGGTAGAGGAAGACAGTTCTAGGGAAAG Y GTGTGAATAAAAGCCTATAGGTGAGAAGAGGCATCACAAATCTGAAGAAATGGGATAACTTTAAGAAAGCTGCAGTAGAGTATGCTTGAAGATGAGGCAG Celera SNP ID: hCV1632195  Public SNP ID: rs1998505 SNP Chromosome Position: 122909336 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 74666 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count): Caucasian (T,47|C,73)  SNP Type: INTRON Context (SEQ ID NO: 248): ATGTGATTGTCTATGACATAAAATCCATTCAGGAGCAAAGCACCCATTGGCATCAGGGAATTCAGTGTCTGGTTATAAGAAGAAAGAGTTTTAGGATCTA S TTTTGCAATGCTGATTTAAACTGCGACATATCCATAATAGTGGAAAAGGAAGACAATAGGCCATAGTGGTTTTTACACATAGGGCTCAGTGTAAAAAGAT Celera SNP ID: hCV1632205  Public SNP ID: rs10818509 SNP Chromosome Position: 122926554 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 91884 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (G,50|C,70)  SNP Type: INTRON Context (SEQ ID NO: 249): CCATCCCCACCCCAATCCTGGTCCATGGAAACATTGTCTTCCACAAAACCTGTCCCTAGTGCCAAAATGGTTGGGGACTGCTGGTCTATGTGATGGTAGC Y GTCAAGCAAAAATACATAGTGTTTAGAAGCCCCTAAAAGAATATTCTGGAACCACCCTTTATAAAGATTTTGGTTCTTATTGACTTATCAGTAGCATAAT Celera SNP ID: hCV2783718  Public SNP ID: rs10818500 SNP Chromosome Position: 122850704 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 16034 Related Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV25751916 (Power=.8) Related Interrogated SNP: hCV2783604 (Power=.8) Related Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP: hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,60|T,52) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 250): ACTCAGCAATAAGAAGGGAATGAAGTATTGATATACACAACATGGATGAATCTCAAAGTAACTACGTTGAGTGAAAGAAGCCAGACCAAAAGCAAGTCCA M ACTGTATGACTCCCTTTATGTACTACAATACATGCTCATGCATGTCTGCTATATGGACAGATCCTACTGTACACACAATTGTTTTCTACTCTTTCGATTG Celera SNP ID: hCV3045801  Public SNP ID: rs2057465 SNP Chromosome Position: 122966658 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 131988 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,46|C,72)  SNP Type: INTRON Context (SEQ ID NO: 251): AGGTTGACCAGGCTAGTCCTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCTACCGTGCCTGGCT Y ATAGAGAGTTTATTTTTATTTTTATTTTCAAGACAGAGTCTTGCTCTGTCGCCCAGTCTGGAGTGCAGTGGCATGATCTCAGTTCACTGCAACCTCCACC Celera SNP ID: hCV3045804  Public SNP ID: rs2057467 SNP Chromosome Position: 122972543 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 137873 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,66|T,26)  SNP Type: INTRON Context (SEQ ID NO: 252): AAGTTAATTATATATGGTCAGGAAGTAGAGCCACATTATACATTTTAAATAGAGAAGAAACATCAAAAGAAAACATAATTATTTCAAATATATGAAATGG R CATTTATTCTTGGAGCAAATATTGTTAGCCTGATATGAGCCTATGTTTTCAGAGTGGCAGCAGTCATTTGATAAAGCAATAATTTGCGCTTAGGAGATGG Celera SNP ID: hCV7577287  Public SNP ID: rs1323478 SNP Chromosome Position: 122943245 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 108575 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (A,47|G,73)  SNP Type: INTRON Context (SEQ ID NO: 253): GTTCTTGTTGTTCTTTTTATTTTTTGTTTTTTTAAATTATTCTTTTTTCCTTTTCCTACTCTATTTCTCATTTCCATTTCTTTTCTCTGTAATATATAAT Y GAGTATGATTTTATGTATTTGAGATTTTATGTTTTTCAATCTTAAGTTAACTTCACTTTTTTCATTTGTAGAATAGGAGATATTGTCTACTCTGTCCACC Celera SNP ID: hCV7577311  Public SNP ID: rs1323473 SNP Chromosome Position: 122866297 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 31627 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (T,32|C,84)  SNP Type: INTRON Context (SEQ ID NO: 254): ATATAGAGGAGAAAGGCACTGGAGGCTTCGGTGCCAGCAGTTTAAAGACTGACTGGAGAGAGGGCGGAGGTGGAGCAAGATGGCTGAATAGAACCCCCCC M GAGATAGTTCTCCACACAGGAACACCAAATAGAACAACTATCCACGCAAGACAGCACCTTCATAAAAGCCATAAAATCAGGTGAGTGATCACAGTGCCTA Celera SNP ID: hCV7577328  Public SNP ID: rs1323476 SNP Chromosome Position: 122855591 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 20921 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,33|A,87)  SNP Type: INTRON Context (SEQ ID NO: 255): AGTGTTTTAACCCAAAAGGGCATAGTGATCGACTAATTCAAGTGGCCCAACAAGCTTGGAGGGCACCCACCACCCCACCTGGCAGAATTATTCCAGGCTT Y TGCCAACATTGTGACATTTTAAGAGTCTGGTAAAAGCAGGAAGTTTTTAGTAACAATGGAATTAATTTATCAGCAATTAAATCCTTTAAAGCATCTGACA Celera SNP ID: hCV7577331  Public SNP ID: rs1468673 SNP Chromosome Position: 122849711 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 15041 Related Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783604 (Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,62|T,58)  SNP Type: INTRON Context (SEQ ID NO: 256): ATAATGGAAGTGAGTCTATACATGCTTTTGAGTGATTTTTAAAAATTATTTTATTTAAAAACTTACAAATATAAACTGGATTACTAAGTGTATATCACAA R AGTATCTAATTTGAATAGCGAGAACTACATACGCTATTACATAGGAAAAAAAAGTGTTTTAACCCAAAAGGGCATAGTGATCGACTAATTCAAGTGGCCC Celera SNP ID: hCV7577332  Public SNP ID: rs1468672 SNP Chromosome Position: 122849558 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 14888 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,33|A,87)  SNP Type: INTRON Context (SEQ ID NO: 257): TCAACATTGTACTGGAAGATCTATTTAAGCATAAATAGTACTAAGCACCAATTACTAATCTGAAGGCCTCCTCACAGGTCCAAGGGCAATGAGCAACCTC R AGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATTAAAAATTAAAAGGATTTCACATTCTTTCCAAAGTGTACTGCCCGGTGTCTGGCACACGCATGT Celera SNP ID: hCV11720348  Public SNP ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 146273 Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,45|G,73)  SNP Type: UTR3 Context (SEQ ID NO: 258): TACTCCATCAAACACGTTATTATCCATAAAAAAGACTTCAACATTGTACTGGAAGATCTATTTAAGCATAAATAGTACTAAGCACCAATTACTAATCTGA R GGCCTCCTCACAGGTCCAAGGGCAATGAGCAACCTCAAGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATTAAAAATTAAAAGGATTTCACATTCTT Celera SNP ID: hCV11720350  Public SNP ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 146236 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,48|G,72) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 259): TTCTCTAAAATGCCACATGAACCCTCTCTATATTCCCACATGAAGAGGAATGGAAGGTAATTATTTGGTCTTTTCTTCTGTTTAGGGGAATGAACTGAAC S ACTCATTTTTTTAAAATCACACTTAAAAGACACATGGGCAAAAAAGTTCCCCAAAACTACTGTCTTACCGAATTTGAGAAGGGAGGTAATGTATGAAGCT Celera SNP ID: hCV11720351  Public SNP ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 145947 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,65|G,55) SNP Type: UTR3 INDEL;UTR3  Context (SEQ ID NO: 260): GAAGCTGGAGGTTTAGTTTACATTTAGAAAGTTAAGGTGATAGCAGCACTTTCTCTTAGCTACTGCAGCCAAGGAAGACTTTTAATCATGTTGACCAGAA M ATGTAAATGGGGTCAATATTTTTTGCTCAATGAAGAAAAAAGCAGTGATTGAATTCCAGCTGTGGCATCTGCTGGCTGAGTGACCGTGGTAAAGTCACTA Celera SNP ID: hCV15755658  Public SNP ID: rs2300934 SNP Chromosome Position: 122848784 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 14114 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,77|A,43) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 261): TAAGTGTTTAGGTTACACATTTATGTTGCCAGTCTTGGATTCATCTTATATACTAGGTGGTCTTGTTCTTTGTATTTAGCAGCAAGAACTCACAGTTTTG S TACATATTTTTTATTTTATTTGTAAATTAAACTTTTTTTTTTTTTTTGAGACGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGG Celera SNP ID: hCV16234840  Public SNP ID: rs2416817 SNP Chromosome Position: 122927237 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 92567 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HGBASE Population(Allele,Count): Caucasian (G,47|C,73)  SNP Type: INTRON Context (SEQ ID NO: 262): CTTTGACACTTGACAGTTTTATTATGATGTAGTCAGGTGTGGTTCTCTTTGAGTTTATCATACTTGGAGTTCATTGAGTTTTCTTGAATGTGTGGATTAA Y GTGTCTCATCACATTTGAAAATTTTGACCATTAGTTCTTCAAATATTTTTTTCTGTCCTTTCCTCTCTCTCTCGTCTCCTTCTGGAACTCTCTTCATGCA Celera SNP ID: hCV26144291  Public SNP ID: rs4570235 SNP Chromosome Position: 122865107 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 30437 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,76|C,44)  SNP Type: INTRON Context (SEQ ID NO: 263): GCCAGCATGCCATCTTCCAGACACCTCCACATGTTCAGCTAATTGGAAGTTCTCTGGACCCTGTCCTTTTGGGGTTTTATGGAGGCTTACTTATGTAGGC R TGATTGCTCACATCATTGGCTACTGGTTATCAAATCAATTTTAGCTGCTCTCCCCTCCTTAAAGGTTGTGGGGTTGGGCTTAAAGTCCCAACCCTCTAAA Celera SNP ID: hCV26144296  Public SNP ID: rs10760143 SNP Chromosome Position: 122883917 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 49247 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,75|A,43)  SNP Type: INTRON Context (SEQ ID NO: 264): AGGTATAAGGCAGCAAAACAGTGAAAGTGTGTGATTTCCTTGCCCTTCGTTAGATTCTTTGATTTTTCTTACGACAAGTAATTCCTGCTAATGAGCATGG W GTTTCTTTCTAAAATTAGATTGTGGTAATGTTTGCACAACTTGGAATATACTAAAAGCCTTTGAATTGTACACTTTAAATAGGACATGATATGTGAATTT Celera SNP ID: hCV26144328  Public SNP ID: rs4836841 SNP Chromosome Position: 122967298 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 132628 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,51|A,69)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 265): AGTCTTTTGGGTGACCCCACGTGGCCATTCTAGTTTCATCTGTGCTTCCAATCCCCTGATGCCCCACATATACCCACCATTTAATTCAAGAAAAAATAAC Y AAAAAAAAATTATTTAAAGACCACAAGCCCTTAGTGATTTTGCCTTTGCAAATTTGGTAAGGCAATTAGCAGTAGGTATAAATTTCATATTTCACTAAGC Celera SNP ID: hCV26144332  Public SNP ID: rs4837813 SNP Chromosome Position: 122974284 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 139614 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,62|T,58)  SNP Type: INTRON Context (SEQ ID NO: 266): TTTAAGGAGCTTATCCAAATGGTGACAACACAATAGCTACCCATTATTAGCTTCCAACATTTATCAGTTATTGTGATAATTAACTTGCTAAATTATCTCT Y ATCTTGACAACCATGCAGAAGGGTGTTATTACCCTCTGGTTACCAATGAGTAAACTAAGGCTCAGAAAAATGTAGTGCTTCAGGGAACACATCTAATAAT Celera SNP ID: hCV29005931  Public SNP ID: rs6478496 SNP Chromosome Position: 122860313 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 25643 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87)  SNP Type: INTRON Context (SEQ ID NO: 267): TATTTAGGACATATTCAGTTTGAAATGTCTGTGAGACAACTAAGTGGAGGTGGCATAGAGTCAGAAATGTGAGTCTGGAATTTAAAGAGATCTGGACTAG Y CATACAAATTTTATGCTCAGTCACATCAGCATAAAAATGACATTAAATTGCATGGGAATCAGCTCACTCAGGCAGTGGTTGGGAGACGAAAGAAAAGCAG Celera SNP ID: hCV30059070  Public SNP ID: rs10156413 SNP Chromosome Position: 122907603 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 72933 Related Interrogated SNP: hCV2783620 (Power=.7) Related Interrogated SNP: hCV11266229 (Power=.6) Related Interrogated SNP: hCV11720414 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783597 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783621 (Power=.6) Related Interrogated SNP: hCV2783634 (Power=.6) Related Interrogated SNP: hCV29006006 (Power=.6) Related Interrogated SNP: hCV7577344 (Power=.6) Related Interrogated SNP: hCV16175379 (Power=.51) Related Interrogated SNP: hCV1761888 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783589 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,38|C,70)  SNP Type: INTRON Context (SEQ ID NO: 268): TGTGAGTTATAGGTCTTTTTGGACATGGAATCCATCTTTTATTACTAAGATAAAATATAATATCTTTATGCTGATTCCCTGGTGCACGTTACTCAGCCCA Y TGAAAACCTTGGCAAAATGTCAGACCTTAAGACTTTCCACTATCCCAAAACTATGAACTGTAGTTGCCTAGTTTTCTCTTTTGCTTATTTATAATGTTAT Celera SNP ID: hCV30041036  Public SNP ID: rs10156476 SNP Chromosome Position: 122910502 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 75832 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,44)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 269): ATAGAATGACTAAATGATAAACCTATCAAAAATAGTAACTACAATTATTTTTTAAGAGACAGACCATGTAAAAAGATACAAATAGATAAAACAAAAAGTC M AAATGCAGGAAAAAGTGTAGATGTTTGTTTGGCTTTCTCTGCTTGTTTTTAAAAACTTTTCTTTCTGATAATAGTTAAGTTGTTATAAGTCTAAAATAAT Celera SNP ID: hCV29734592  Public SNP ID: rs10435889 SNP Chromosome Position: 122859566 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 24896 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,76|C,42)  SNP Type: INTRON Context (SEQ ID NO: 270): ATTTGTGCAGTATAGAAAATTGACCAAAGAATTAAATTGACAAATAAATTAGAAGTGACTTGGGAAAAACCTTCATCAATCAGAATTCATTAATATGTGT K ATAAATGCTTTATTTAAAAGTTCTGGTTAAATTACTTATATTCCTAAATACAGTATCATCTATGGGCTCCCATATCCTGCTGGCATAGCTAATCTTTTTA Celera SNP ID: hCV30830458  Public SNP ID: rs10733651 SNP Chromosome Position: 122898015 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 63345 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|T,70) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 271): ATGCAGAACTCAGATATGGAGAGTAGACTGTATATTATTATTCAGCATCTTAACTTTCACAAAACAGCATACGTGGACAACTCTCCAAGTTAAAAAATAT R TGTACATGCATGTATAAAGCCTTCTTACTCTTTTTAAAGTCTATGTTGTGTTCCATTAAATGTATTCTTCATAATTTAGTTAGCCTATTCCTATTGATGG Celera SNP ID: hCV30830475  Public SNP ID: rs10733652 SNP Chromosome Position: 122911520 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 76850 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,48|A,68)  SNP Type: INTRON Context (SEQ ID NO: 272): TAAAATGGTGTAGTATTTGCAAGTGACTTTCGTACATCCTCTAGTATACTTTAAAATCATTGCTAGATTACTTATAATACCTAAGACATTGTCAATGCTA R TAAATATTATATTGTTTAGGAAATAATAATTAAGAAAAAATATCTGTACATGTTCAATACAGATGCAACCATCCTTTTAAAAAAATATTTTTAATCCGTG Celera SNP ID: hCV30830474  Public SNP ID: rs10739590 SNP Chromosome Position: 122911302 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 76632 Related Interrogated SNP: hCV11720413 (Power=.7) Related Interrogated SNP: hCV16234795 (Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP: hCV2783582 (Power=.7) Related Interrogated SNP: hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783638 (Power=.7) Related Interrogated SNP: hCV2783633 (Power=.7) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,48|G,50) SNP Type: TFBS SYNONYMOUS;INTRON  Context (SEQ ID NO: 273): AATATTCTATGAATTATATTTTTTAGCCAGATGTTTTATAAATGTATAGTATGGGCATTTTTCAGCTTGGTAAAACTCTCAAATGGTTAAACAAACTTGA Y AGTTCTCGTAAAGCTTCCCCATAAACTTAATTTTGTGTTTGGGTTAGCAAATAATTGAAATGAGGTTTTGACTTTCTTTGGACTACACATGGGGGTCCAA Celera SNP ID: hCV30830397  Public SNP ID: rs10760139 SNP Chromosome Position: 122837512 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 2842 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,33|T,87)  SNP Type: INTRON Context (SEQ ID NO: 274): CCAGATTTTTGCACAAGCCATACTGAACTACTTCATGTTTCCATACTCATGTTTTGTTCCAGCCACACTGAATTACTTAACATTCAGCACATTGCCAAGC Y CTTTTCCCCCGCTTCCGGGGTTTGCACAAGTTGTTCCCTTTGCCAAGCAAATTCTTCCCCACCTCCCTACTCCTTGCCTAAACTCTTCTTTTGGGCGTAG Celera SNP ID: hCV30830427  Public SNP ID: rs10760142 SNP Chromosome Position: 122875375 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 40705 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV29005933 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,77|C,43)  SNP Type: INTRON Context (SEQ ID NO: 275): TATTTTTTGTCCAAAAGTTTGTAAAGTTTATAATTTTTGTACTGTTTTTAGACTAAATGTACTTATAAGAACAACTGTGTATCATGAAAATCATTTTTGC R TACACCTAACCTTGCAAATGTAGGACTCTTGATGTTAAGGACTAGTATTGCTCATGCAGACATTTTTTGTTGAGATACTAACTAGTACATTTTACATTTT Celera SNP ID: hCV30830440  Public SNP ID: rs10760144 SNP Chromosome Position: 122886404 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 51734 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV3045797 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (A,44|G,76)  SNP Type: INTRON Context (SEQ ID NO: 276): ATACCTCCTTAGGGCCCTCCATTTTGAGACTCACCGGGCTAAGTGGTCTTTGAGGTCCCTGTCAGCTCTCAGTTTATTGAAAAGCCAAATGTTTGTTTGT R TAAGAGATTGAAAGTGAATTTGAATTTCAAGTATTTTATCTATTTCATACCTCTATTTTCTTCTAAGAAACCTTTTTTAAAAAGTAGATTTAATTTTTTT Celera SNP ID: hCV30830486  Public SNP ID: rs10760149 SNP Chromosome Position: 122925096 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 90426 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,47|A,73)  SNP Type: INTRON Context (SEQ ID NO: 277): GTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTATAAAGCCAAGTGAGACACAAGCCTTGTTCCTGAGAAACTCAAGTCACAGCTCAGTGTGTCTTTC Y TCACATTGTTCCTGGCATACCCTCAACAATATCTACTGAAACTTCACTCACCCCTCAAGGACCAGCTCAAACACCACTCCTCTGTAAAGCTGCTTTCTCT Celera SNP ID: hCV30830540  Public SNP ID: rs10760154 SNP Chromosome Position: 122988234 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 153564 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,75|T,45)  SNP Type: INTRON Context (SEQ ID NO: 278): CTTCAATCTACTTTGCAGCACAGTTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGGACCAAGGATCCATGTTTATCTTTGTA W ACTGCAGAGTCTAGCATGGTGGCTAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAATGTTTTAACACATATAGAATCCTTTTT Celera SNP ID: hCV30830541  Public SNP ID: rs10760155 SNP Chromosome Position: 122988499 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 153829 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,75|A,45)  SNP Type: INTRON Context (SEQ ID NO: 279): TTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGGACCAAGGATCCATGTTTATCTTTGTATACTGCAGAGTCTAGCATGGTGG Y TAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAATGTTTTAACACATATAGAATCCTTTTTATTTTTGACTGAAATTTTTATCC Celera SNP ID: hCV30830542  Public SNP ID: rs10760156 SNP Chromosome Position: 122988522 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 153852 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,75|T,41)  SNP Type: INTRON Context (SEQ ID NO: 280): GAAATGGGCAGAAACAACAAATGCAGTAAACTTCAAAGCCAGAAAACAAAAAAACAAATGAACAGAATATTCAAAAGTGGAGTGGAGGCCGGGTGTAGCT R TTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAAACCCCATCT Celera SNP ID: hCV30830468  Public SNP ID: rs10818507 SNP Chromosome Position: 122908170 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 73500 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,48|A,68)  SNP Type: INTRON Context (SEQ ID NO: 281): TCTAAATTCTCTTGTACCTGTAAGTTTATTGAGATAATAAAGGAAATAAACTTTTATGCCTCTCGTTCTGTCAGACTTAGTAGATACTGGATTGGCACTG R CCACCTCTAGTAAAGATGGCTTTATTAGTAGTTTCCACTTGTTCTTTCACCTAAAGGACCTGCTTCACACCACCAAGCATCAGGATGTGTTGCTCAGTGA Celera SNP ID: hCV30830521  Public SNP ID: rs10818513 SNP Chromosome Position: 122969531 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 134861 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (A,72|G,48)  SNP Type: INTRON Context (SEQ ID NO: 282): TGGCAATCACTAATCTACTCCCCATCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAGTATGTAAACTTTTGAGATTGGCTTTT K TACTGGGTATGATGCCCTTGAGAACCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAGTAGTACTCCACTATAGAGATGTTCCG Celera SNP ID: hCV30830537  Public SNP ID: rs10818515 SNP Chromosome Position: 122987782 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 153112 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,73|G,45)  SNP Type: INTRON Context (SEQ ID NO: 283): TTATGGAGTTCTTATGATTACTCTTTCTAGGATTACTGTTTCTTGCTTTTCCAACTCTTTTCTTTCTGCTTCAATTATTTTTAAAAGAAGACATGCTAAA R TCTCTGTTTTTTACAAGAAAAAAAACCAGGTATCACAAAATCTTTGAATTTTTTTTTCCTTCCAAAATAACTGCCAAATCTCTCAAAACACTTAGTCTAT Celera SNP ID: hCV30830419  Public SNP ID: rs10985140 SNP Chromosome Position: 122862658 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 27988 Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV11720413 (Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP: hCV2783604 (Power=.7) Related Interrogated SNP: hCV2783608 (Power=.7) Related Interrogated SNP: hCV2783638 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV2783625 (Power=.7) Related Interrogated SNP: hCV2783582 (Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.6) Related Interrogated SNP: hCV7577317 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,63|A,57)  SNP Type: INTRON Context (SEQ ID NO: 284): ATATGTTTGTGCTGTCAATAAATGTTTTGTAAACTGTCAGAAGTTTTTGCTTTTTTTTTCTATACCTATTTTTGTTAGAAGTCAGACTGTGCTCTTCTCT R TGTCATTATGTTATTTTTATCATTAACCATTTAAAAACATGTTTATGCCAGGCGCCATCGCTCATGCCTTTAATCCCAACACTTTGGGATGCTGAGGTGC Celera SNP ID: hCV30830473  Public SNP ID: rs7036649 SNP Chromosome Position: 122910705 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 76035 Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783590 (Power=.6) Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) Related Interrogated SNP: hCV2783589 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV16175379 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,43|G,71)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 285): AGATAAAATCATACTCATATTTCTCAATTTCTTTCTAATAGTAATTTTCATAGCAAACAAGTATTTTCAATTATCTCCAAATATTTTCACATTAGTACAA Y TTTATTTTCCAATAAGAATGTGAAAATGGACATGCATTGCTCAAAAAGCAGACATAACTTCTGTTTAGAATTTTCTGTTTCTGTTAGAATTTTCACTTAC Celera SNP ID: hCV30830406  Public SNP ID: rs7040603 SNP Chromosome Position: 122848041 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 13371 Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,33|C,87) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 286): AGATGAAGTGTAACAACACGTAAAAACAACAACAAACAAACAAACAAACAAACAATGATGTTTTTGATAAACTAAATGTGAATTTTGTTGGCTTTATAAA Y ACCAGAATCTAATTTTTATATATGTTCATTTAAAGCTTTCAAAAGCAAATATTCTATGAATTATATTTTTTAGCCAGATGTTTTATAAATGTATAGTATG Celera SNP ID: hCV30830396  Public SNP ID: rs10739584 SNP Chromosome Position: 122837364 SNP in Genomic Sequence: SEQ ID NO: 79  SNP Position Genomic: 2694 Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,32|T,82)  SNP Type: INTRON Gene Number: 3  Gene Symbol: GSN - 2934 Gene Name: gelsolin (amyloidosis, Finnish type)  Chromosome: 9 OMIM NUMBER: 137350 OMIM Information: Amyloidosis, Finnish type, 105120 (3) Genomic Sequence (SEQ ID NO: 80):  SNP Information Context (SEQ ID NO: 287): CTTAAGGAAGCAAAGTGGAGTGTGAACAATAGTTTCCTGAGGAAGTGTTGGGTTTTAATTGTGTTGAGGAGAAGAACCATTTCCGGAACTGTGTGTGCCT R TGATGCCTGCGGAGTTGGCTTGGCACAGCTATTTCCAGACTAATCCTGAGTCCTATTTATAGGCTGAGATGATTAGGTTGGCCTGTGTCAGGAGAGGCCC Celera SNP ID: hCV11840638  Public SNP ID: rs12683459 SNP Chromosome Position: 123088119 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 91045 SNP Source: Applera Population(Allele,Count): Caucasian (A,7|G,33) African American (A,10|G,18) total (A,17|G,51) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,89|A,19)  SNP Type: INTRON Context (SEQ ID NO: 288): CACAGCATCTGACTCCAGCTTTGCTCCTGCAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTGCCACATATGGACAGTTCTATGGAGG Y GACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGTGAGGTTCTGGGGCCATTGGTGTGTGTCGTGGGG Celera SNP ID: hCV15974495  Public SNP ID: rs2304393 SNP Chromosome Position: 123123435 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 126361 SNP Source: Applera Population(Allele,Count): Caucasian (C,37|T,1) African American (C,33|T,3) total (C,70|T,4) SNP Type: DONOR SPLICE SITE;TRANSCRIPTION FACTOR BINDING SITE;SILENT RARE CODON; SILENT MUTATION;INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,115|T,5) SNP Type: DONOR SPLICE SITE;TRANSCRIPTION FACTOR BINDING SITE;SILENT RARE CODON; SILENT MUTATION;INTRON  Context (SEQ ID NO: 289): AAACTTTCACTATTTTCTGATTTGTCATTGAATTCCTTCCCGCAGTGGCGTCAAAAGCCTGGACACCAGCCGGGGCCGAGGTCCTGCAGGTATTTGGGGA M CTCCCCTAGCCCACTGATATCTGCATCATTAGTATTCTTACTATTCTCACCTCTCAGAGATCACAGTAGGTGAAGCTCTTCCCATACTTTCTGTCACTGT Celera SNP ID: hCV2644  Public SNP ID: rs747846 SNP Chromosome Position: 123022431 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 25357 SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (A,35|C,85)  SNP Type: INTRON Context (SEQ ID NO: 290): TCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGG K TCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATT Celera SNP ID: hCV578218  Public SNP ID: rs306784 SNP Chromosome Position: 123112473 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 115399 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,76|T,44)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 291): GTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGC Y GGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATG Celera SNP ID: hCV578219  Public SNP ID: rs306783 SNP Chromosome Position: 123112418 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 115344 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,69|T,51)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 292): TCCCCAAATCGCACATGTGCAGGATGAGAAAGATACAATTTGCAGGCAAAAGACTTAGAAATTTAATTATTAATAATCAGGGTAATAATTAGAGTAAACA Y ATGCCTTGTGCAAAACCCTGAACATGTTTTATCTCATGGTAGGTTCTAATATTATCCCTCTTTGAACAGCAAAGGCAACTGAGACTCCGAGAAGTGATGT Celera SNP ID: hCV578224  Public SNP ID: rs306781 SNP Chromosome Position: 123082765 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 85691 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,6|T,114)  SNP Type: INTRON Context (SEQ ID NO: 293): CTCAACCTCCCAAAATGCTGGGATTACAAGCATGAGTCACCATGCTGGCCCTGCCTCACTTTTGAGGCTGTTTTTCCATCAAACCTGATCACTTTAGGGA R CAAGGGAGATCAGTTTCTTGCACAACTCCCCGACTACCCTGAGAGGTGGGACTGGAACCCAAGGCTGTGCTGTGAGTGTGAGCCGCATTCTCCAGTGGGG Celera SNP ID: hCV1219005  Public SNP ID: rs10818527 SNP Chromosome Position: 123115075 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 118001 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,110|A,2)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 294): TGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTG S AACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAG Celera SNP ID: hCV1219006  Public SNP ID: rs11788156 SNP Chromosome Position: 123111661 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 114587 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,116|C,4) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 295): TATTTTTGCTGTAGAGGGAAACACTATCTCTATCCTCCAAGCCTGCCCTACAAACATCCTTGAAAAGACAGTCTAGGACAAAGGGCAGTCAGTGCCTATG Y TCACAAAATGTACAGAAACATGAGACCCATGGAAGGTCATCTCCCAACAGGGGCAGGATTTTTTGTATTGTAGAATATAGTACTGTATTTGGTGGAGGGA Celera SNP ID: hCV3045812  Public SNP ID: rs7030849 SNP Chromosome Position: 123009655 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 12581 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,64|T,56)  SNP Type: INTRON Context (SEQ ID NO: 296): AGTGAAGAACACATCAGTTCCTTCAGAAACCCTGAGGCTTCTCAAAGAAGGCTCTCCTCTGTTCCAGGAGAAGGAAGGGACAGATGAGAAGTCACTTCAA S TTCCCAGAATACTCAGAAGCTGAACTTGTCAAGGTTTAGATGTGGCAAAGCAGGCCAGGCATGGTGACTCATGCATGTAATCCCAGCATTTTGGGAGGCC Celera SNP ID: hCV7577155  Public SNP ID: rs1560980 SNP Chromosome Position: 123133818 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 136744 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,114|C,6) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;MICRORNA;UTR3;INTRON Context (SEQ ID NO: 297): GAGGGTGCAATTTTTGGTTCTTCCACATCAGGGTATCCTGATGCTGTGCCTTGGTACGGGGCTTGTCATTGGGCAGTCCTGGGAAATGTGCACTTTCCCA K GATTCTCTCAGCTCTTTGCATTTTTTAGTTTACCCGGCCAGTCCTTGCTAAGCTGCTGCAGTGGAGAGGGAGGTGAAGCAGACACCACCGGGCCCTCTGA Celera SNP ID: hCV26144366  Public SNP ID: rs11787991 SNP Chromosome Position: 123086454 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 89380 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,107|T,3) SNP Type: NONSENSE MUTATION;UTR5;INTRON  Context (SEQ ID NO: 298): AAACTCCATGGATCATAGAAGTAGAGACTCATGGGTACTTCCTTTCAAGAACCTCCGCTTTCCTTGATGTTTGCTTTGTGGCTGAGGAGACAAAGTGGCT S GATGGCACTCTCAGCTTACAATTCAGAGGAACCATTGTTGAGTCCCCTGATAGAAGTTTTCATCCCTTGGGCTTTGTGGTGGATTAAAGACGGCTACAAA Celera SNP ID: hCV28010798  Public SNP ID: rs4837817 SNP Chromosome Position: 123034984 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 37910 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,18|G,102)  SNP Type: INTRON Context (SEQ ID NO: 299): TGGAGAGAATGAGTACCATTGCTGAAGCCTTGTCACTCCCCCCACCGCACACACACAGCAACATCCTCAACGCCCCTTTCTGTTCCATACCTCTGTTCGG Y TATCCCCGAATTGGCCGGCCAGCCTGAGCTGTCCAGAGCCCTTTCACAGCAGCACTGGGGTGTGTTAAACCCTGGGCTCCAGAGGCAAACAGGTCTGGGC Celera SNP ID: hCV29005968  Public SNP ID: rs7046030 SNP Chromosome Position: 123087058 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 89984 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,28) SNP Type: UTR5;UTR3;INTRON  Context (SEQ ID NO: 300): CGTAGCCCTGTTCCTTCCTGTGTTCCTGAGCAGGGTGGTGGAGAGCCCACGTGGGTATCATGCCTTTAAAGGAGGATGGTGCCCAGGGCAGGGGGTGGGC W GTAGGGACAGTAGGACCATAGACCCTCTTCTTTGTCAACTCCTGTCCTGAGTCACCCTCTCCCTGGTGTGGGAGGCACTAAGAATTCCTGGGGTTTCCTT Celera SNP ID: hCV29005979  Public SNP ID: rs7039494 SNP Chromosome Position: 123134411 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 137337 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,100|T,12)  SNP Type: INTRON Context (SEQ ID NO: 301): AGGTCGCCACTGTTAACAATGGTGTGTGCACTCCTGCCAAACACGTTGATTGGATGCCTTCACTTTTAGCCATCCAGTGACAGTGGGTCACTTTCCCCTA M TCCATGTGAATAGTTTGGGTCATTTGTGATGTGGGTCATAGAGATGATTTCTGCTTGGTCTATGGTACGTTGCTGAGACACTGAGCTCTGGTTTTCTTTA Celera SNP ID: hCV30830611  Public SNP ID: rs10985196 SNP Chromosome Position: 123072865 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 75791 SNP Source: dbSNP  Population(Allele,Count): Caucasian (A,32|C,88) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 302): GCAGCACAATCATGGCTCACTGCAGCCTTATTCTCCTGGGCTCAGGTGATCCTCCTATCTGAGCCTCCAGAGTAGCTGGGACCACAGACGCATGCCACTA Y GCTGGATAATTTTTAAAATTATTTGTTGAGACGGGATCTCCCTATGTTGCCTAGGCTATTCTCGAACTCCTGGGTTCAAGTGATCCTCCCACCTCGGCCT Celera SNP ID: hCV30830568  Public SNP ID: rs12343027 SNP Chromosome Position: 123027074 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 30000 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,113|T,7)  SNP Type: INTRON Context (SEQ ID NO: 303): CCCCCACTACTGTTCTTTTCCTGATCTAGGATCTAACCCAGGATCCCACATGGCATTTACTCATCATGTCTCCAAAGTCTCTGAATCTATGGCAGTTGCC Y GGTCTTTCCTTTTTTTCATGCCCTTAACACTTTTAAAGGGTACTAGTCAGTTATTTTGTAGAATGTCTCTCAATTTGACAACCCCAGACATTTAAAAACA Celera SNP ID: hCV30830652  Public SNP ID: rs12683989 SNP Chromosome Position: 123125867 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 128793 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,108|T,12)  SNP Type: INTRON Context (SEQ ID NO: 304): CTTCTTTCTCCTTTTTTGGCTTCCTCAATAGTACTTCCTTCTTTCTCTCTACCAGTTCCTCTGTTCTCTCGTTCTTTAGCAGAAGACTTGATGACCTATT W AATCTAGAGTCTGGATCATCAGCAATTAAAACAAGCCAAAAAAGAAAAAAGATCATTTCCTTTTCCTTAAGCGGTCAGGAGCGCTCAGCCTTCAAACTGC Celera SNP ID: hCV30830600  Public SNP ID: rs4595204 SNP Chromosome Position: 123056182 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 59108 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (T,10|A,110)  SNP Type: INTRON Context (SEQ ID NO: 305): GTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAG Y CACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAA Celera SNP ID: hCV30830641  Public SNP ID: rs4837839 SNP Chromosome Position: 123111948 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 114874 SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,66|T,46) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 306): GTGCCTGCAGGAAGATGGGACTGACAACTCCCTGGATATCTATCTGTTTGGGCAGCACTGATCTGCTCTGCCCTATTGCTTCCTGCACAAAGGAGAACAC W GATGGAGAGAGACAGCACTGGAGGGGCTTTGGATGGTGTGGGGAGAACCTTAGATGAAGAGGGGCTGAAGTTGCTTCCCCTTATCCCTTCCTCCCACCTT Celera SNP ID: hCV29752541  Public SNP ID: rs9409230 SNP Chromosome Position: 123007581 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 10507 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,107|T,13) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 307): CTGCCTTCTAGTGGCTCTGTGAGTTGGGCAAACCATTTAACTCCAGTCCGAGCCCAAGTGATTAAAAGTTCATCCCATGGCCTAACCACAACCTACCACA Y TGCGGTTTCCTGGCTTGCCTGAGCTGGGGGGTGGGGGTGCTGCACAGCATCTGACTCCAGCTTTGCTCCTGCAGATCTGGAGAATCGAAGGTTCCAACAA Celera SNP ID: hDV70729405  Public SNP ID: rs16910509 SNP Chromosome Position: 123123292 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 126218 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,110|T,10)  SNP Type: INTRON Context (SEQ ID NO: 308): TTGTCCAGTGCTTCGGCCTTGGTCCCAGCGCCTTCCCACGGAGCAGCACTCTTCACCCTGCACAGCCTTGTTAGGTAGGTAGAGCAATACAGACACCTGT Y GTCCTCTTAAACCCCGCCCTGGCTGCCCAGGGAAGCCTGGAGGGGACTTCAGTGGTGGAAGCAGCCGCTGTAGCCACAGTGGATTCAGTGGGAGTCCCTG Celera SNP ID: hCV25988184  Public SNP ID: rs10985200 SNP Chromosome Position: 123083688 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 86614 Related Interrogated SNP: hCV30830641 (Power=.7)  SNP Source: Applera Population(Allele,Count): Caucasian (C,19|T,13) African American (C,32|T,4) total (C,51|T,17) SNP Type: ESE;TRANSCRIPTION FACTOR BINDING SITE;SILENT RARE CODON;SILENT MUTATIO N;INTRON;PSEUDOGENE  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,60|T,44) SNP Type: ESE;TRANSCRIPTION FACTOR BINDING SITE;SILENT RARE CODON;SILENT MUTATIO N;INTRON;PSEUDOGENE  Context (SEQ ID NO: 309): GTGCTCGAAAATGGTTAAAAATAATGAAAGCACCTAGGCCACAGCAGAACCTAGTATTCAACCACGGAGGCAAAGGCCCAATGTACTGTGGATCAGAAAG R ATGTTTTTGGCTGTAAGCAGTGGAGGGCTAACTCAAACCAAATTAAACTGTAAGCACACTTATGTGCTCTCATACATAATCAGTTCAGAGTTGAGGGGGA Celera SNP ID: hCV578200  Public SNP ID: rs767769 SNP Chromosome Position: 123138157 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 141083 Related Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,75|A,45) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 310): TGCATTCCAGCCTGGGCGATGGAACGAGACTCTGTCTCAAAAAAAAAAGAATTATTTTATAAATAAATACAGAGAATTTTTAAGAAGTGAGATTTATGAC R TGAAGCAACCCTTTTCCTTTTTAAAAAATAGGGTAAAGATTTTAATAACAAAAATGAAAGGCATACTTCAACAAGTAAAATATTTAGAGGGGTAAAAATT Celera SNP ID: hCV1219008  Public SNP ID: rs7028970 SNP Chromosome Position: 123109342 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 112268 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,65|G,49)  SNP Type: INTRON Context (SEQ ID NO: 311): AGTCAGGAGCCCGGAGTCCCTGCCACACCTCTGCCGTGGGATGCTATAAGTTCTGCCCCCTTGCTGAGCCTCAGTTTCCTAATCTGTGAATTGATCTGAT K CTCCCAGTCCTGAGTTTACGCTCAGGAGGGCTGAGAATGAACATAAGGGAATGTGACAGAGCTGGGAGGACGCTTAGAGAAAAATGAGGTCCATCGTCCT Celera SNP ID: hCV1219009  Public SNP ID: rs3747850 SNP Chromosome Position: 123104749 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 107675 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 312): GGCTGGGCAGGCCCAGGCCTGGACTTGGAGCCCGGAGAACTCAGGTATCCCTCTGGGGCCCCCCACAGACACCGAGACAAAGTTCAGACTCTTCAGTGTG R CACACAGGCCTCGGTGACCCCTGCTGCCCTCTGCAGCCTCCTCTGCTCTTGCTCCCTGTGTTTCATACTGGACCCCTGGTAATTCACTGGATATGGTTAT Celera SNP ID: hCV1219010  Public SNP ID: rs7870797 SNP Chromosome Position: 123100243 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 103169 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,66|A,48)  SNP Type: INTRON Context (SEQ ID NO: 313): TGGTTTATGCTTCCATTAAGAGCCTATGGGAGCTGTGGGGTTTTTTATAATATCATCCTCCAAATGGCTAGGGGGAAGGGAGAGCTCTCTGAATTTAGGC Y AGAGCTGGCCCACTGCAGGCTGGGCAGGCCCAGGCCTGGACTTGGAGCCCGGAGAACTCAGGTATCCCTCTGGGGCCCCCCACAGACACCGAGACAAAGT Celera SNP ID: hCV1219011  Public SNP ID: rs3761856 SNP Chromosome Position: 123100125 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 103051 Related Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,72|T,48)  SNP Type: INTRON Context (SEQ ID NO: 314): CCACTGGGTTTCATAACTGGCTTCTCTGTTTACTGACCATTGTCCCAATTAGCAAAATCCCTGGTCAGAAGGGCGGGTGCTCCTAGGAGGACCCAGAGAA Y AGCAGTGAGCCAAAAAGTAAATAGACTCCAAGAGAGGGCTTTCCATGAGTGGCTGGCTGCCTGGAAAATCAAGAACAACAGTGTTTGGAGTGAAGAGAAA Celera SNP ID: hCV1219013  Public SNP ID: rs10760169 SNP Chromosome Position: 123097503 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 100429 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 315): AAGGTTGCTCTCTGTTTTTCTCCCTCTTGGAAAGTCCTTCCTCTGCAGAGCAGGAAGCTGCCTCCTGTGGCTTCTCCTGCTCATTCTGGCTTGGGTTGGG R CATTGTAGACCCTGCCTTCCCCTGCAGCTCTGCAGAGCCTGTGACTCTCCAAAGTCTTCTGCTGGTTCCACGGTCCCAGCATCTGCAGCCAGGCCTCCCT Celera SNP ID: hCV1219014  Public SNP ID: rs4837832 SNP Chromosome Position: 123096249 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 99175 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (G,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 316): TGTGAGAAGCATTGCATTGGGAGCCTTGCCATCAAAGCCCTGAATGAATCCTTTTTGTAACAAATCTGTTGGTAAAATATAATGCACTATTTATAAAGAG M CTGATTATTCCCAAATCAACCATTTGCACACATCTGTGTGTTCATGTGTTAGGTTTTCTTAATACAGGCTACCCTTGCACTGTTGTCAGTTGAAGGGAAG Celera SNP ID: hCV1219022  Public SNP ID: rs880823 SNP Chromosome Position: 123078288 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 81214 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,59|A,35)  SNP Type: INTRON Context (SEQ ID NO: 317): AACTTGGTTCTCCTTCTGGTTTATGTTTTGCACTTGCCCTAAGACCTTGAGGACATCACCTCACTGAGTTTCATTTTTCTCAGCTATACAGTTAGGGCTT Y AATACCCACTTCACAGAATTCTACAAAGTACCTAACACAATGCTTGGCCAGTGCAATCATGTGGATGCTGGGAATTTGTATTATCTCATCTGACTCCAAA Celera SNP ID: hCV1219023  Public SNP ID: rs878691 SNP Chromosome Position: 123077428 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 80354 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 318): AGGGGTCGCACCAGTGGGAGTGGATTCGTTTATTCTGCTGAGCTGGCTAAGCAAACAGTCCTGTTATTTTCCAACCTCAATAAGAATATCATCAGAGCCA R GCTTATTTGCCAAGCAAAGTATATATATTCTACATATGTGAGCCTTCAGGGTGGGGCTTGGCCCTTAATTTCCCTGCTACAGAGACTGTGGCTGAGCTGG Celera SNP ID: hCV1219024  Public SNP ID: rs10760167 SNP Chromosome Position: 123075366 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 78292 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,65|G,53)  SNP Type: INTRON Context (SEQ ID NO: 319): ATAATGTCAGCCTTCCCAGCTCTGATGGCCTCTGAGTTGGAGGGCTTTGTGCTCCCCACATGTACTTGGGTCCGGCATGTCTGAGACACAAAGTGAGCCC R CAGTGGTGCAACTGGTGATTCAGCTACTGTTCTTGAATTTAATCTTTTCGGACTGAATTGATTGCCCCATTTTGCAGATAAGGGAGTTGAGGCCTAGGAT Celera SNP ID: hCV1219026  Public SNP ID: rs963003 SNP Chromosome Position: 123074630 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 77556 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 320): TGGTGCTAGTTGAGCATTGCTCGCTTGCCCGTCCCATCTGAGCTCTTTGGCCCCAGCCCAGCTCAGGAGCTGCCCTGGGTCTCCTCCCCGACCCTAGGCC Y CTTCAGATCTCCCCTCCGTGCTCCGGGCCTCAGTTTCCTCCAGGGGAAAGCAGAGGGCTTGGTTTGGTGCCTTCCTGCGAGGTGAAGCGAGGGGTCCCCC Celera SNP ID: hCV1219027  Public SNP ID: rs10818524 SNP Chromosome Position: 123070000 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 72926 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,68|C,52)  SNP Type: INTRON Context (SEQ ID NO: 321): CATAACAAAGTATCATGAACTGGGTGGCTTAAAACAACAGAAATGTATTGTCTCACACTCTGGATGCCTGAAATCTGAAATCAAGGTGTCCACAGGACCA Y ATTCCCTCTGAAGAGGCAATGGAAGGAGCTGTTCTCCAGACCGCACTCCTAGCACCTGGCAGCCACAGGTGTTTCTTGGTTTGTGGCTGCCTCACTCTAA Celera SNP ID: hCV1219038  Public SNP ID: rs10760159 SNP Chromosome Position: 123038163 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 41089 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 322): AAAGAAAATGCTCAAGAAAGAGCATCTTGGCTCTTTTGAAAGGAGTCATCTTTTAGACCTGATCTTGCCCCTTTAATTTAGAGACCAAAGCATTATAACT M AGAGGCTGATACTCTTGAGGAGGTTGAGAGGTAAAGTCCAAGAGACCCAGATAATGAGGACATTATTAGGTAACTAACTATATCACTGTGTACAATGCAA Celera SNP ID: hCV1219040  Public SNP ID: rs10985188 SNP Chromosome Position: 123039846 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 42772 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 323): AAGAAAGAGAATGTACTGGAAGTATATTGGGTGGCTCCTGGAACCAAAAGAGAACTTCAACAATCAGGCCTCGGGAGAGGCAAAAATTCCTGGACATCTC Y TTAGGGCCTGCTTTCCAGATGATTCTGCGTCAATATCCTTCTGGCCAAGTATCCTTTTTCTCAAGATACAAATTCTTGGAAGAGTCAGTTGGGTTAGCTT Celera SNP ID: hCV1219042  Public SNP ID: rs7865779 SNP Chromosome Position: 123042618 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 45544 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,68|C,52) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 324): ATCACAATGCAAAAGGAGTCCATTGCTCTGCAAGAAGATAAACACCTCTTATTAAACTCGGATACATCATGATTTGTAAATATTTGATTCCTGTGAAGGA R AGAAAAAAGCTAATGCAAGCTGTTTGCTGCTCAGTAAGTGAGGGCTCACTCTCTGGTTATGGAACTGAGCAAAATGCTTATGGCCTCCCCTCTGTCTCCA Celera SNP ID: hCV1219043  Public SNP ID: rs10760161 SNP Chromosome Position: 123043889 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 46815 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,70|A,50)  SNP Type: INTRON Context (SEQ ID NO: 325): TCATAATTACCATCATTATTATTACTCTAAGGGCCTTTGCAGCTTTAAAATCTAGGATAACATGTCAGAGAAAAGCTAAAACAGGGAGGAAACAGAAAAG W TTCCCTTAATACGGCTTGAATCAGTACTTGCAAGGGAGAGATTTTTCTGGAAGATGGCTTGTGTATTCATCATAAGGCCTCATTTAACCTTGGTGACTCA Celera SNP ID: hCV1219044  Public SNP ID: rs10818517 SNP Chromosome Position: 123044420 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 47346 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,70|T,50) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 326): TTCTTCCATCAGAGGAGATCCTTATCAGCAAGACATTCACTCTGAGGTGAGGATCCAGGACAAACAGGCCTTACCTTACCTAGATCCAATGGGGGGAGAA R TACAAAGAGGTATCTAGAAAGGAATGAAGACAGGATACCAAGAAGACTTCTAGGCATCCATGAAAGGCAGACTTGATATATCCTGCCAGCTATAAAATAC Celera SNP ID: hCV2973085  Public SNP ID: rs10818523 SNP Chromosome Position: 123067908 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 70834 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 327): GATATCTGATACAAATCTAGAAGATTGCAGAAGCAGACATTTTGAGAAGGTATCTTAGCCTTACTAATTAACGTAAATTGATATCAACATCTTGCCTACT Y GTTAAAAGGCTACTCCAGTTATTGGATTTCTGTGGTGATTGTTTTTTAAAGGTTAGCCTTGACCAATTCTATTACAAGTTTTTTTTTTTTCCCAGCAGCA Celera SNP ID: hCV2973086  Public SNP ID: rs10513365 SNP Chromosome Position: 123060746 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 63672 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 328): TGGCAAAAGTAACTTTGATGGTCTTCTATATACAGGAAATAAAGTATTCTAATACTGGACCTCTGTTTACAGAAAGAAAGCACTTAACAACCAAAAAGCC R AAAAAAACCCCTGCACTTACTGCTCAAGTTAAAAGGATTAATAGTGAAAATTTTACTACCGATATTGTGTCTGAGATTTGCTTCAAAATAATTTGGCAAG Celera SNP ID: hCV3045810  Public SNP ID: rs2209076 SNP Chromosome Position: 123001226 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 4152 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,74|G,46)  SNP Type: INTRON Context (SEQ ID NO: 329): CATTTTACCCTAACAGGTAGGGTATCTGTTAGCACCATTTTATAAATGAGGCTACTAAGGCACAGAGATGTTAAGCAACTTTTCCAAGGTCACACAGCTA R TAAGTGATTGGACTAGTGTGCAAACCCAGGTGTGAAGGGCCTAGCACAGACCTGGTTCAGAGTAGACATTTGGAGGCTCCCTGATCTTTGATCCTCGCTC Celera SNP ID: hCV7577193  Public SNP ID: rs913763 SNP Chromosome Position: 123107610 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 110536 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 330): GAGTGTGGCATAATGACACAAGCTAACCATCTGCTGGAAGATATAGCAAATGTGTGAGGGGTCACCTGTTCCTGGGAAGATGCCTGGAATCCTCCAGGTG Y GCAGGTTGTTTGTCACCTGCTCTGGCTTCATTTCTGCTTGTATTTTTATAAATTGTTTTGTAAAAAGTAGATGTTATTTTATCCTTCATCTCTTCCCAGA Celera SNP ID: hCV7577235  Public SNP ID: rs1052508 SNP Chromosome Position: 123007832 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 10758 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,75|C,45) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 331): AAGCCTTGTTACCCATTCCAGTTTGGCATGTTCTAACACATTTATAATCAGTCTCCTGCATCACAGAAAACTCCCTTAACCAGTTCTTTCAGGAAAGGGA S TTTTTCTAGTTAGATTAACTGATTCTGAACATCACAACAACTTTATTCCCTTTTCCAGGCACTAGGAACTCAAAACTTTTAAGAATGAACTTGGTCCTGA Celera SNP ID: hCV7577248  Public SNP ID: rs1359086 SNP Chromosome Position: 122997121 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 47 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,46|G,74)  SNP Type: INTRON Context (SEQ ID NO: 332): TTGCTCTGCCTCATGGGGAGCCTCTTCACCTCTTGCATTCAGTGCCTGGGTTAAGGGATGAGAACAGTTTTCTTCCTGGGCTATAAAGTATCCCTGAAAT Y GACTCTTCCCAAGAGTGATCCAGAAAGGCTTTAAGCCATGGAGCCTCGCAGGGAACTCCAGTGAAGGGGTCGCACCAGTGGGAGTGGATTCGTTTATTCT Celera SNP ID: hCV8605563  Public SNP ID: rs10739594 SNP Chromosome Position: 123075201 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 78127 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,68|C,52)  SNP Type: INTRON Context (SEQ ID NO: 333): TCTCCTTTCTGGTTTGGGCAGCAATATTTTTTTCCACTTCCTGTTTTCTGGTGTCTGATTCCTCAATAAACAAGGTCATGGTGAGAAATAGCCACATGTA W ACCTGGGGACTTTCTGCCCTGGTCACCAGTGATTGGACCAGGTGGGCACGTGAGCAAGCTGGGCCAATCAGAGTCCTTCTCTGTGTTCTTGAAATTAGGG Celera SNP ID: hCV11266055  Public SNP ID: rs4837823 SNP Chromosome Position: 123051832 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 54758 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (T,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 334): AGGTGACCTGGCCGAATGTACCCATTTTACAGATGGAACCCTGAAGCTCAGAGACTTGTAGGTCCTGGATTTGGTTGTACAACCAGTATCTGGTACTGCT Y GGGCTAGGAAAGAGGCTTCGAGTCAGAGCATCAGGCCCTACCCTGTATTTTGCATATGAAGACACTGAAACCCAGAAAGGTACAGTGACTTGCCCAAGGT Celera SNP ID: hCV11493945  Public SNP ID: rs1865542 SNP Chromosome Position: 123098620 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 101546 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (T,67|C,51)  SNP Type: INTRON Context (SEQ ID NO: 335): CCTCATTGGCTTTCTCTGTGAATACGATGGAAGATGGCCACCTCAAAATGGCAGCCTTGGCCTTCAGAGATCATTGGTCCTCACAGACCCAGTTAATTAA Y CATGATTGTCATGTCTCAACTTCCAGCTCCAAATTCTAATAGTCCAGCTTTTTTCTGCCGTCCACTCCTCATGCTGTCAACTGTGTTGTGGGGGAAGGTT Celera SNP ID: hCV11840647  Public SNP ID: rs10985194 SNP Chromosome Position: 123067533 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 70459 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,68|T,52) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 336): GCTGTGCTGGGCATTTTCACAGGAAGCAGAGATTGAGATATCTGGCCCTGCCCTCAGGGAGCTCGAAGTCTAGTGTGGGAGATGGTAAACAACCCAGTAA K GAAATCATTACAAATAACCATCACTTACAAGGGAATTAAGCAGAGTTCTGGAGTGGAGAATAACGAGACAGGGGAGCCTATTTCAGCAGAATGGTCCAGA Celera SNP ID: hCV15830840  Public SNP ID: rs2149805 SNP Chromosome Position: 123061320 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 64246 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,68|G,52)  SNP Type: INTRON Context (SEQ ID NO: 337): GTAGCTTCCCCTCTCTGGGCCTCAATTTTCCTATCTGGAATGTAGAGAGGTTAGTTGATCTTTTCAGTTCAATTTTATTTTTCAGACCAAAGGACCACAG Y CTTGCAGGGCAGTTCAAGTAGATGGGGCTCTATCTCCTCTTCCGTTCTCTCCCAATAACCACCTCCCCACCAAAAGAAAAAACCCATAGCAAAAAAATAT Celera SNP ID: hCV16110109  Public SNP ID: rs2078141 SNP Chromosome Position: 123013845 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 16771 Related Interrogated SNP: hCV29824827 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,79|C,41)  SNP Type: INTRON Context (SEQ ID NO: 338): AAGCACAGGCGCACAGACCCAGACCCCGGCCCCGGCCCGGCCCGGCTGCAGGGCCGGGCTCCCCACATCGACAAGGACACCGGAGCTGCCCCGAGACGCC R AGAGGGCTGCGAAGAGCTGCCTTTGTACTCAGAGCCAGACGCGGCCTACGGGACGGGACCGCCACGTCTGGGGCTTGCGGGCTGCAGGGCGGCGCGGCAC Celera SNP ID: hCV16234838  Public SNP ID: rs2416819 SNP Chromosome Position: 123003235 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 6161 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (A,48|G,72) SNP Type: MISSENSE MUTATION;INTRON  Context (SEQ ID NO: 339): CCTGAGACATAGGTGAACTAGGAGCATCTTTTATTCTAATATTTGGTCTTTGACCCCAGCTCCTGACACAGAACTCCTAATTCCTTGGAATTTCCTAGGT R ATAGGGGTATCTTTGTTTCAATAAGGCAACTCTTATTGGGCTCCCGGATGGGGGCTGGTCACCAGAAAGGCCAAGCCACTGTTAGAAGCTTGGCGCTTTC Celera SNP ID: hCV26144347  Public SNP ID: rs10760158 SNP Chromosome Position: 123028835 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 31761 Related Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,61|G,57)  SNP Type: INTRON Context (SEQ ID NO: 340): AGGTTTTGTTTGGCTTTTTTAAATATTTGCAGATGGTATAATTCCATCTTGAAAACAAGGGAATCAACTGAAAAGCTCTTGGAAACAGGAAACTTCAACC M AGTATCAAGTTACTAACTGGAAATAAAAATAATGCCATACAGATCAATTAGAAAGAAAGCATAAAAGAACCAAAGATGTTATTCAACTTAGCTACAAAGG Celera SNP ID: hCV26144352  Public SNP ID: rs10760160 SNP Chromosome Position: 123043147 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 46073 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,67|C,51)  SNP Type: INTRON Context (SEQ ID NO: 341): GCACTTTCCCAGGATTCTCTCAGCTCTTTGCATTTTTTAGTTTACCCGGCCAGTCCTTGCTAAGCTGCTGCAGTGGAGAGGGAGGTGAAGCAGACACCAC Y GGGCCCTCTGAGATCCACTCTAATCCAAGACGGAGACAGTGGAAGTTAACGCCCAGAGTGCTCTGTGATAAGTGCCAAGGGGCTCAGGGAGACAAAGAGT Celera SNP ID: hCV26144367  Public SNP ID: rs3827678 SNP Chromosome Position: 123086543 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 89469 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,61|T,49) SNP Type: UTR5;SILENT MUTATION;INTRON  Context (SEQ ID NO: 342): GGGCCTCAGAGCAGCTCGGCCTCTGATTGAACTTCACTGACCCACAGGGAGCGCCCTTCTCTTGCAGAATGCTTTGGCAGAATAGTACACAGGAAGCGTG Y GGGCTTTTTTTTTCTTTTTTTTTTAAAAACAGCTTTATTGAAATATAATTTACATGATTTATTGGAGTAAATTTACATATAATTTACATACACATAATTC Celera SNP ID: hCV26144368  Public SNP ID: rs4836845 SNP Chromosome Position: 123089777 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 92703 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (T,61|C,49)  SNP Type: INTRON Context (SEQ ID NO: 343): GCCGGGCCCAGAAAGCTGACTCACCCCATCAGCGGCTATCCAAAGGTTCTGCTGACAAAGAGGTAGCCCTAGTGCTGCCCTAATAGGAGGACTTGAGGGC Y GGGTCTTGGCTCTGATGCATCTGCCTTTGAGACTGAGCCCTGATAACTCCAAAAGCCAAGTTGCCTCAATGTAATCTGTCAACAAAAAGAATGTTATGCT Celera SNP ID: hCV27492705  Public SNP ID: rs3810942 SNP Chromosome Position: 123084816 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 87742 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|T,52) SNP Type: MISSENSE MUTATION;ESE;UTR5;INTRON;PSEUDOGENE Context (SEQ ID NO: 344): TGTATTTTGCATATGAAGACACTGAAACCCAGAAAGGTACAGTGACTTGCCCAAGGTCACCAGGAAGTCAGTGTCAGAGCCAGCCCTAGCACTCGGGCCT Y TTCCTTTCCACCTAGGGGTCCTTCTCTTGTACCTGAATTCCCCCATTCCCTTGAACTCATACATCTTCTTCCAGGCTGGAAGCAGAGTAAGACAATGTTG Celera SNP ID: hCV27912354  Public SNP ID: rs4836847 SNP Chromosome Position: 123098764 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 101690 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,67|T,51)  SNP Type: INTRON Context (SEQ ID NO: 345): TAGCAAGGGCTCCAGGGTCTGTAGTGAGGGCTCCCAGAGGGCAAGGGTGGGGTCTGTTCACCAGCTCTCCTGTGCCAAGGGCCTGGGCTCCAGAGCTATA Y GGCAGGCAAAGCTGCAGGCCCTTTGTGATCATTAACGTGGTCCCTGGGTTGATGGCCAGTGGCCTCTGGGGCCAAGGTCAAGCCACAGCAGCCCCTCTAT Celera SNP ID: hCV27912355  Public SNP ID: rs4837834 SNP Chromosome Position: 123098998 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 101924 Related Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,67|C,51)  SNP Type: INTRON Context (SEQ ID NO: 346): AGGCCCCGTGCTGGAAATCTTTCCACTTCCAAAGAGCAAAAGCAAACAGGCTGTGTGACCTTCGGTCAGTCCCCTCCCCTCTTTGAGCCTCAGTTTCTCT R TCTGCAGATTGGGGTTGGATAATGAGCTCTCAGAGGGCCCTTTGGTTTCAAGAGCCATTGAAGATGCTGGAAGGAAGCAAGCTGAGGCCCTGGGGACCCT Celera SNP ID: hCV27967328  Public SNP ID: rs4836848 SNP Chromosome Position: 123103173 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 106099 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,68|A,52) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 347): GGACTTTATCTGGGGCCATAGTGGAGCCATGGTAGGTCTGGGCAGAGGAGTGGCATGGTCTGGGCTTGCTCTAAGGAGGATGCATTGTAGGAGGGAGAGG W TGCAGGAGGATCAGTTAGGAAGGTTCTGCAGTCATGCAGGCAAGAGGTGATGGGGCTATGGACCCAGATGTTGGCATTGGGGTGGGGAGAAGGGGGGACA Celera SNP ID: hCV27988905  Public SNP ID: rs4836843 SNP Chromosome Position: 123081492 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 84418 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 348): TCTGGTTCCACAAGTCTGGGGTGGGGCCTGAGGCTCTGCATTTCTAGTGATGCTGATGTAGCTGGTCCAGGGATCACACTTTCAGTTGCAAGATTTGAAA W CAATCTGTTATTAGTGTAGAATCAATACTTATGAGATAAGGGACTTAAGAGGCAAGTCCCTTGTTCAGGGCTAAAGACCCAGTGACAGTAATAGGGTCTA Celera SNP ID: hCV28010799  Public SNP ID: rs4240466 SNP Chromosome Position: 123079555 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 82481 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,66|T,52) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 349): TAAGGGACTTAAGAGGCAAGTCCCTTGTTCAGGGCTAAAGACCCAGTGACAGTAATAGGGTCTAGCCTGGAGCCCAGATCTTTTAATGTCTTGTCTTTGA Y ATCTGACTTATCTGTCTATTTTATCTGCAGCTATGAGTTTCTAGAATCTGAACAGCCCTTAAAATACTTTGCTGCTTAATTATGTAGCAAAGTAGGTTCT Celera SNP ID: hCV28010800  Public SNP ID: rs4837827 SNP Chromosome Position: 123079692 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 82618 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 350): TGTGATGTATGTAAGGCAAGGCTGGGAGAGGTAGTTCCAACTAACTGCCAGCACCTGCTCCTGAGCTCCCACCACCAGCGGGCTTGGGTAGTTTGGGTGT S GCCCATTCATAACCCCACACATCGCCTGCAGCGCCATCATCTTGACATAGCATTTTCCCTGTGTGTCTGCACATTGTCTTCCCTCTGTATTTGTCTGTTT Celera SNP ID: hCV28032606  Public SNP ID: rs4837818 SNP Chromosome Position: 123042140 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 45066 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,68|C,52) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 351): ACTTCTCTTTAGGATGATTTTAACCTTTCTTCTCCAGACCAGGCTCTGGTCTTTGGCTTTGCACAACCAAAAGACCTTTAGAAAGATTTTTCTCTCCTCT R AAAGAGCAATTTTCTCCCAAAGATGAATTCTTCTGCTAGCCCTTTTAGCAATGAGCACACGTAGCAATATGTTTGTGTCTCCACCACGTTTTATTTCTAA Celera SNP ID: hCV28032607  Public SNP ID: rs4556152 SNP Chromosome Position: 123056730 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 59656 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,67|A,51)  SNP Type: INTRON Context (SEQ ID NO: 352): TGTACTCATTTAGTAGATGAGAAGAATGAGACATTGAAAACATGCACAGTGGAGGTGGGAATGAAAGCCAGCTCTCCAACTCTCCAGTCCTCTTTCCTGT S ACTGCATCAGGCTGCAGGGTGAAGGGGAGGTCTGGGATACAAAGAGAACTTAGAGGTGGAGCAGTTGGATTCTGTGCAGTGCTAGGAGGGAGGAGAGGGG Celera SNP ID: hCV28032608  Public SNP ID: rs4837835 SNP Chromosome Position: 123100810 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 103736 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HGBASE Population(Allele,Count): Caucasian (C,68|G,52)  SNP Type: INTRON Context (SEQ ID NO: 353): CGTTAAAAGGCTACTCCAGTTATTGGATTTCTGTGGTGATTGTTTTTTAAAGGTTAGCCTTGACCAATTCTATTACAAGTTTTTTTTTTTTCCCAGCAGC R TAAGTGAGCAGAATCAAGAGAAGAGACTGATATTTATTTCAAATAGTAAAAGTAAAAAATATCAATTAGTTTCTTCAGAAAGGTTACTTGGAATTTCTTT Celera SNP ID: hCV30830606  Public SNP ID: rs10739593 SNP Chromosome Position: 123060846 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 63772 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,68|G,52)  SNP Type: INTRON Context (SEQ ID NO: 354): AGAAGAAATAATATATCTAAGATTTGCCTCAAAATTATCTGAGGGCAGGGAAAGGAAAGGTATGTGAACACGTAGATGATTCAGGATGAGTATTTAGTGG M AATTGTAAAAGCTGGGTGGTGGGCACATTAGGATCATTATACTACTCTTTCTACATTTGAGTGGTTTTAACATTTTCCATAATAAAAAAGTTTTTTTTTT Celera SNP ID: hCV30830589  Public SNP ID: rs10760163 SNP Chromosome Position: 123048273 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 51199 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 355): GTGGGGTGGGCAGGGGAGAAGCCCTGGTGTCTGGGAAAGAAGGCGAGTAGGTGAGGCTGGTGCTAGATCAAGGAAGGCCTTGGAGGCTGTGCTAAGAGGT Y TGGAAGGTGATGGGGGCTGTTGAAGATTTTTAGGCAGGGAAATGACAGGGTTATGTTTTTAAGAAAGATCATTTAGAGGCCATCGTGTAGTGGATGATTA Celera SNP ID: hCV30830591  Public SNP ID: rs10760164 SNP Chromosome Position: 123050983 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 53909 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,67|T,51)  SNP Type: INTRON Context (SEQ ID NO: 356): TGTTAGTTCATCTCTTTATTCATTTCATTCATCCATTCATTCATTCAACATTTACTAGTCTCCTAATGTATACCAAGTTCTGTGTTGGGCACTGGGAGCA Y AATAGTGAACAAGACTTGGTCCCTGCCCATGAGGGATTCACTGATAGAGCTAGAAACATAAACAGGTAAGTATACCACAGTGTGATAAGTGTCAGTGCAA Celera SNP ID: hCV30830607  Public SNP ID: rs10760165 SNP Chromosome Position: 123061075 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 64001 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Context (SEQ ID NO: 357): ATTCAGCAAACAGGCACGTAGTGAGAGCCCCAGGCTGGGATTGTGAGTGCTGGAATGAAACCCTTCTCTTTATGGCTCCATCTGGAGTGTGTGGGTGGTG S ACTAGAATCAGTGGTTTTGCTGACCTTGTTTTTAAGCTGCTGCAGCCTTAAGGTCCAAAATGGAAAACAGACCAACTTGGAGTTAGCTGGGGCTAATTCT Celera SNP ID: hCV30830616  Public SNP ID: rs13292100 SNP Chromosome Position: 123080818 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 83744 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,66|C,52)  SNP Type: INTRON Context (SEQ ID NO: 358): ATATTCTGAAATATTTATAGAAGAAATAATATATCTAAGATTTGCCTCAAAATTATCTGAGGGCAGGGAAAGGAAAGGTATGTGAACACGTAGATGATTC R GGATGAGTATTTAGTGGCAATTGTAAAAGCTGGGTGGTGGGCACATTAGGATCATTATACTACTCTTTCTACATTTGAGTGGTTTTAACATTTTCCATAA Celera SNP ID: hCV30830588  Public SNP ID: rs4837819 SNP Chromosome Position: 123048255 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 51181 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (A,68|G,52)  SNP Type: INTRON Context (SEQ ID NO: 359): CCAAAATAGAATAATCAAATCACCAAATCAAATAATCAAATTGACTTAGTTGTTACACTGGGATCCTAATGAACCCCAATGTTAGCCCTACTTGACTCAC R AGATTCTGGTAATGGGTCACTGATAAAGCCCAGGTAAAGCAACCTCACCCCCCCACCCCACCACCCCCAGTGCCCACCACACCCCGCCACTGCAAGGGAG Celera SNP ID: hCV30830590  Public SNP ID: rs4837820 SNP Chromosome Position: 123049915 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 52841 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,68|A,52)  SNP Type: INTRON Context (SEQ ID NO: 360): GTACCTAGGGGGTTCCCATGATGACACCAGCCACTGTTGACAGAGCCCTTTATATGCCTGAGGCCTTGACACAGAGAATTCATTTAATTTCCCCATAATT M TTTGAGTGGATATTATCATCAGAGGAAGAAACCAAGGCTCAGAGAGGTTGAGTAACTCAGGGTGTCCTGTCCTTCAAGGCCTCTGAGTACAAAAATAGCA Celera SNP ID: hCV30830609  Public SNP ID: rs4837826 SNP Chromosome Position: 123063950 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 66876 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,68|A,52) SNP Type: TFBS SYNONYMOUS;INTRON  Context (SEQ ID NO: 361): AAATGTGATATTTTTCACAATTTGTCTACCACCTGCCATCTTCCAACTTGCTCTGCCATAATCACTGCCCCAGAAGGTTTCGTGCTTTTCGGGTGCAGGG R CACGTTTTGACTTTCTTGGACCCTGAGCACTTTTGCCTTGTGGCTTGTACATTACACACACACATATATTTCACACACATGTAAGTTAAATATATGTATA Celera SNP ID: hCV29879049  Public SNP ID: rs9792437 SNP Chromosome Position: 123004722 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 7648 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (A,64|G,56)  SNP Type: INTRON Context (SEQ ID NO: 362): TTCTGGCCTATGAGATAACAGGGGATGTAAGGCATGTCATCTTTTCCTTAAGAAAGAGGAAAATTTTCCTATAGAAACCCTGCCTGCTCCTGGGCTTCTG S GTAAATTTTCCTCATCCTTAAGGAAAGGGTGATGTACCTACATCTCTGGCAGGAACATAAAACAGCACAACCCCTATGGAGGGTACATTAGTTTCCTATC Celera SNP ID: hCV30830586  Public SNP ID: rs10760162 SNP Chromosome Position: 123045004 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 47930 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,73|G,47)  SNP Type: INTRON Context (SEQ ID NO: 363): AGCTCTAGCTATCCTCCTGCCGCGGCATCCCAGCATACTGAGATTACAGGCATGAGCCACTGCACCCGACCCTGTTTGTTTTTTTAAGTAAATTTTTGAA Y TGAAGTATAACATACCTACAGCTGATGTGTTCTTTTTTTTTTTTTGAGATGGATTCTCACTCTTCACCCAGGCTGAAGTGCAGTGGCATGATCTCAGTTC Celera SNP ID: hCV30830597  Public SNP ID: rs4836842 SNP Chromosome Position: 123053254 SNP in Genomic Sequence: SEQ ID NO: 80  SNP Position Genomic: 56180 Related Interrogated SNP: hCV30830641 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,68|T,52)  SNP Type: INTRON Gene Number: 4  Gene Symbol: LOC392387 - 392387 Gene Name: similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase ) (AdoHcyase)  Chromosome: 9  OMIM NUMBER:  OMIM Information: Genomic Sequence (SEQ ID NO: 81):  SNP Information Context (SEQ ID NO: 364): TGCATTGATTACAGCCCTGATCTACCAATCTACCTCTCCGTTGCCTCTTCCTAAAAGGATTAAGGATGGCTTTCAGAAATATATACAACAGGATAAATTG W ATTGCCCACATGGCTTTATTACTTCTCATAGGCATGCATCAGCCTTAATACTAGAACTTGTTATTTATGTGTCTGTCTCTTACGTCAGATGTTCTCCCTG Celera SNP ID: hCV1917479  Public SNP ID: rs10984994 SNP Chromosome Position: 122518590 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 5818 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)  SNP Source: Applera Population(Allele,Count): Caucasian (A,25|T,15) African American (A,17|T,9) total (A,42|T,24) SNP Type: INTERGENIC;UNKNOWN  SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,41|A,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 365): CTAATCCAAACATTCTTCCAGGAAGACACACCAAGGCTCAGAGCAGGAAAGGACTCATTCAAGCTCACATGATAACTTGGCAGCAGAACCAGGCCTGGAA Y GCATATTTCTTCTTGGTGCTGCATTCCTGATTCAGAAGAGCAGCTCTCCCTGCTAAGCAAACAGCAGGTGGGCGGATGTGGTCACTAATCAGTGCACTGG Celera SNP ID: hCV3121928  Public SNP ID: rs10985009 SNP Chromosome Position: 122532860 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 20088 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,41|C,79)  SNP Type: INTRON Context (SEQ ID NO: 366): AGGGAGATAAAAATGGTGCTGTGACACAGAATAATATCCCCTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGTGACATTCAACCTGAAAGCAAAAGGAG W CAACTCTACCAACACTGGAAGGAACAGCAAGTGCAAGACTTTGAAGTTGGAAAGAAACAGAAAGGAAACCAGAATGGGTGAAGCATATTAAGTGAAGGAG Celera SNP ID: hCV3121936  Public SNP ID: rs735110 SNP Chromosome Position: 122528761 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 15989 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,41|A,79) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTERGENIC;UNKNOWN Context (SEQ ID NO: 367): AATCAATTAACAAATAAATGGGTAAATAATCAAGATATTTACAGATTAAGCAAGTGCTACGAGGGAGATAAAAATGGTGCTGTGACACAGAATAATATCC Y CTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGTGACATTCAACCTGAAAGCAAAAGGAGTCAACTCTACCAACACTGGAAGGAACAGCAAGTGCAAGAC Celera SNP ID: hCV3121937  Public SNP ID: rs735109 SNP Chromosome Position: 122528700 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 15928 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,41|T,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 368): TTTATTGGGTGTGTGCAATGTGTCAGGTGCAGTCTGGAATTTGGAACTGTCACATACTGGCAGCATGACCTCTTTAAGAGGCAGGAACTTGTTATCTCTG Y CATCCGGTCCCATGTTGGGGAACTATCTATGAATCAGCCAAGATGGGTTCCCAGCCCTCCATCCATCTCCCTTCAAGGCAAAATGGTCTAATGGGAAAAG Celera SNP ID: hCV3121938  Public SNP ID: rs747819 SNP Chromosome Position: 122528262 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 15490 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,41|C,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 369): GTGGGCCTTGTTGGAGCCAATGTGCAGCCTGACTTTTCTCCTAGGCAAATGAGGTGCTCTAAAGGGCCCCAACTGATTTCTCACTTTATTAGTCAGCACC K AGCACAGTGTCAAATACACAGAAATGGCTCAAGAATTGTCTGTGAGCCAGGCACGGTGGCTTATGCCTGTAATCATAGCACTTTGGGAGGCCGAGGTGGG Celera SNP ID: hCV3121944  Public SNP ID: rs2416799 SNP Chromosome Position: 122520687 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 7915 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,41|T,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 370): AAATCCTCATAATGGTAAGAAGAAAAGAAAAAATAAAAATTATAGCTGTGACACTCTGTGTAACAGAACATTGACTGGCACTTTTCCTATTTGCCCCAGA R CTGTAGCTAAGGCCCATGAGACCTGGAGCCAAAGGCTTAGGGAAGGACCACAGAACAGCAGGGGTCAGAGTGGGCCTTGTTGGAGCCAATGTGCAGCCTG Celera SNP ID: hCV3121945  Public SNP ID: rs4617229 SNP Chromosome Position: 122520517 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 7745 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 371): TTTATTTATCAGATACTAACCAAAGTAAGTGATCTTTCTACTTAAATGCTACTGTATGCTTAAAACTCCAGAGAATCTAATTCATTCTTTTTCTATTATA Y TTTACTAAAACAAATAAAAATCACCCCAAGTCCCTACTAGTTTTCTCAAATGCTTTCTATACATACATACATACACACACACACACACACACACACACAC Celera SNP ID: hCV11297574  Public SNP ID: rs10760113 SNP Chromosome Position: 122513871 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 1099 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 372): CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATG R CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244  Public SNP ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 10608 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE MUTATION;ESE;UTR5;UTR3;PSEUDOGENE Context (SEQ ID NO: 373): TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGGCACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTG R TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCATAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245  Public SNP ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 10670 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE MUTATION;UTR3;TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO: 374): GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGC R TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGACGAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246  Public SNP ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 10717 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type: MISSENSE MUTATION;UTR3;INTRON;PSEUDOGENE Context (SEQ ID NO: 375): ACTTTCACAAGCATGGTCAAGGAAGCCATCTGGGAGAAGGTACACATTGAGCTGAGGCCTGAATGAGAACGAGGAGGCAGGCTGGGGAAGACCAGGGAGA S AGAATGGTAAATGCAAAGTCTCATAGACAGACACAAGCTTCGTATGTGTTTGAGAGGGAGAAAAAAGCTGGAATGGGTAGAATATAGCAAATGAGAGAGA Celera SNP ID: hCV29005915  Public SNP ID: rs7044106 SNP Chromosome Position: 122533883 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 21111 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,34|G,78)  SNP Type: INTRON Context (SEQ ID NO: 376): CACACTCATAATGACAGAGCCAGGCTTTAATCGCATGCATTTTGGCGCTGGAAACTATGCTCCAAACACCGCAAGAAACTGCCTCACTGTGGGACGTCAC Y GCACATTTAGGGGCGGACAACAGGTGCAGGAGGTATAAGGTGTAGGAAGGTAGGAACTGATGGGAGGTCACGTAAATGACATGAAAGTATTTTGCAAACT Celera SNP ID: hCV30830283  Public SNP ID: rs10818474 SNP Chromosome Position: 122529785 SNP in Genomic Sequence: SEQ ID NO: 81  SNP Position Genomic: 17013 Related Interrogated SNP: hCV1917481 (Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,31|T,89) SNP Type: INTERGENIC;UNKNOWN  Gene Number: 5  Gene Symbol: MEGF9 - 1955 Gene Name: multiple EGF-like-domains 9  Chromosome: 9 OMIM NUMBER: 604268  OMIM Information: Genomic Sequence (SEQ ID NO: 82):  SNP Information Context (SEQ ID NO: 377): GGCTTCATAATCTAAATTACATAGACCAAAAACAAATCAATAGGAAAAAAGTGAAAGTCACAGAGAAAGACAGATTTTGTTCTCAGTGCAAACTGTTCAA Y GCCATGCATGCTGACACTAACACATCTTTAAGGACTTTTTGTTCATCTAGAAAGACGTCTTGGAAGAATTAAGCTTTGAGGAAGCACTGAAGGAGGACAA Celera SNP ID: hCV1917481  Public SNP ID: rs10760112 SNP Chromosome Position: 122507391 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 114479 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,42|T,74)  SNP Type: INTRON Context (SEQ ID NO: 378): GACAGAGTGTGACCCTGTCTCAAAAAAAAGAAAAAAAAAAAACAATTTCCAAAATTAAAAAGGAGTAGGAAATATGATATCCTCCTTGTAGTTAACAATG Y TACTACTTCTCATCTCTTCTTTTTGCTCACATGTATCAAGTAAAAGCACTAGATTATTAAAAATAAATGATAAAAATCTAATAAGATCTGTGATAATATG Celera SNP ID: hCV30830255  Public SNP ID: rs10984984 SNP Chromosome Position: 122503297 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 110385 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,113|T,7)  SNP Type: INTRON Context (SEQ ID NO: 379): TGCATTGATTACAGCCCTGATCTACCAATCTACCTCTCCGTTGCCTCTTCCTAAAAGGATTAAGGATGGCTTTCAGAAATATATACAACAGGATAAATTG W ATTGCCCACATGGCTTTATTACTTCTCATAGGCATGCATCAGCCTTAATACTAGAACTTGTTATTTATGTGTCTGTCTCTTACGTCAGATGTTCTCCCTG Celera SNP ID: hCV1917479  Public SNP ID: rs10984994 SNP Chromosome Position: 122518590 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 125678 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)  SNP Source: Applera Population(Allele,Count): Caucasian (A,25|T,15) African American (A,17|T,9) total (A,42|T,24) SNP Type: INTERGENIC;UNKNOWN  SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,41|A,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 380): TCAGTAAATTAGATGTTTTTAAATCCTGACATTAAATATAACATATAAAGTAAGAGAATAAAAGTATATAAAATATTTTGTAAATCTATGACCCTCATCC Y CCTTTGTTTAAACCAGTATGGTCCTTGAGAGTAGCAGCCTTTTTTTTCCCCTTGCTAAAATAAAATAAACTTCAGTTCCACCCTCTGTTGCTTACCTGTT Celera SNP ID: hCV1917502  Public SNP ID: rs10984974 SNP Chromosome Position: 122461377 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 68465 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)  SNP Source: Applera Population(Allele,Count): Caucasian (C,10|T,14) African American (C,23|T,11) total (C,33|T,25) SNP Type: UTR3;INTRON  SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,42|T,78)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 381): TACTGCTGTAACTGGCAACATGACACAGGATAATTCTAGCTTGACCTGGGCCATTCTGGAAGGATAGGAGGTAGCCTTTGCCTCAAGCATATTGTTACTA M CCTGCACCTTAGAACCACCTATTAGAGAGTTGATCTGTGACAATATGCAAGTCTTTCTGATTACCAATGTGTTACCAGTCTACAGATTATATGACGGAAG Celera SNP ID: hCV25758615  Public SNP ID: rs7849566 SNP Chromosome Position: 122500590 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 107678 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7)  SNP Source: Applera Population(Allele,Count): Caucasian (A,7|C,17) African American (A,7|C,27) total (A,14|C,44) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 382): AAAGGAAAACTTTTGCTGTTTTTATAACTCCCTTTCACCTATAGCATCCAGAACTTTATTCATCAATGCAACTTATACCTATTGATAACTGATTTTTTTT Y CCCTCTAAAATGAAAAGTTAGAGAAAGGCCTTACTTATAGAGCAGCTGCCTGTAGATGTCACTGCTGAACAAGGGCAGCGAAGACATTCTTTAGTGGCAT Celera SNP ID: hCV3121983  Public SNP ID: rs2416760 SNP Chromosome Position: 122414460 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 21548 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6)  SNP Source: Applera Population(Allele,Count): Caucasian (C,23|T,15) African American (C,13|T,25) total (C,36|T,40) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,43|C,77)  SNP Type: INTRON Context (SEQ ID NO: 383): ACCATCTTTACACTGGTCACATTCAGGTTCCAATTCACTCGATTCTAAAAGAGAGAATGCCAAAATAGTTTAGTACAGTCTGAAGCTACAATTAAAAATG S AAAACAACTACTAGTCCTTAAAAAGATTTATAATCCCAGAACTTTGGAGGCCAAGGTGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCA Celera SNP ID: hCV3121984  Public SNP ID: rs991121 SNP Chromosome Position: 122410166 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 17254 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6)  SNP Source: Applera Population(Allele,Count): Caucasian (C,15|G,23) African American (C,26|G,12) total (C,41|G,35) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,43|C,75) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 384): AGAGTTGGTTAAACTACAGCTTTTTACAATTTTCTGGCAGAAGGGACCTTCTTTTAATCCAGAATTGGAATAATTCAACAAGTTTCCTGAAGTCATAAAA M AGGTAGAAGAAAGAGAGAAGTCTAGTCTAGATTATAGAAAAATATTTACTATACAGGATCATGTACTCAAATACTTTACTCATTAGCATTCTAAACACCC Celera SNP ID: hCV1917497  Public SNP ID: rs10491784 SNP Chromosome Position: 122472110 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 79198 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 385): TAATCTATCCAACAAAGAACTTCACCCATTTTCACAAGCCTAGGATTGGATCCACAAAAATTACATCATTCCTGATTTCTGAATTGAAAAGGAAAAATAT Y GTCAAAATCAAGAGTAGGAATACACAATTCAAACCTCTTCATGTACATCGAATGAGTCTTTAAAAAAACCAACAAACTGGCTGGGTGTGGTGGCTCACAC Celera SNP ID: hCV1917498  Public SNP ID: rs920745 SNP Chromosome Position: 122469764 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 76852 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 386): ATTTATGATAAGTGATATTAATAATCACCAAAACCTGGAAATCACCCAAATGTCCTTCAACTAGTGAATGGATACACTATGGTACATTCTCATAATGGAA Y ACCATTCATCAATAAAAAGGAATAAACCACTGACATCCAAGAACATGGATGAATCTTAAATGCATTATGCTAAATGAAAGGAGCCAGGGGAAGAGAACAG Celera SNP ID: hCV1917499  Public SNP ID: rs1867254 SNP Chromosome Position: 122468899 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 75987 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,42|T,78)  SNP Type: INTRON Context (SEQ ID NO: 387): TTTATCGCCTGGCTTCTGAAGAACAATAAAATATAGTGATTTTCACCCTGAAGAAGAATAAGAAACTAAAATCTTTGCCAAACTGCTTTAAGTATTTGAA R ATAGTCACATAAAGTCCCAGAGAAAATCAAATCCTGCACTTTTTCAAACATTCCAAAAGCCAAGAGATGAAAATTTTTTAGCCCTAAAAAAAAGATTTTG Celera SNP ID: hCV1917500  Public SNP ID: rs4837789 SNP Chromosome Position: 122466077 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 73165 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,42|A,78) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 388): TTGAACACGGGAGGCGGAGGTTGTAGTGGCAAAAAAGCCTCAAATCAATGTGCAATTGTCTACATATAAAGGCATCCCTGATAACATTTTAAGAACTATA Y TGAGATTCACGCATTCACTAAGCATACTGCTTTTTGAGATAAAATGCTACCTGATTTCTCTATTCATTTATTAAGCACATGTCAAAATATAAATCAGGAA Celera SNP ID: hCV1917505  Public SNP ID: rs10760110 SNP Chromosome Position: 122452384 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 59472 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,41|T,79)  SNP Type: INTRON Context (SEQ ID NO: 389): AAGCAGTTACCTACTTTTGATCAAGATGGCTACCTTTAAAAAGTCTACTTTCACGGAAAAAAATATTCAAGTGTACCATAAAGGCAATTTAAACTAGAGA Y TGGTATAATTGCAGGAATAATTGGGGTACAGAGTAAAGTTATCTTAAAATAAAAAAAAGTGAAGTATTGTTCTGCTTTCCTACAAAATAGCATAAGAATA Celera SNP ID: hCV1917506  Public SNP ID: rs10984972 SNP Chromosome Position: 122449685 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 56773 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,41|C,79)  SNP Type: INTRON Context (SEQ ID NO: 390): GTGGGCCTTGTTGGAGCCAATGTGCAGCCTGACTTTTCTCCTAGGCAAATGAGGTGCTCTAAAGGGCCCCAACTGATTTCTCACTTTATTAGTCAGCACC K AGCACAGTGTCAAATACACAGAAATGGCTCAAGAATTGTCTGTGAGCCAGGCACGGTGGCTTATGCCTGTAATCATAGCACTTTGGGAGGCCGAGGTGGG Celera SNP ID: hCV3121944  Public SNP ID: rs2416799 SNP Chromosome Position: 122520687 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 127775 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,41|T,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 391): AAATCCTCATAATGGTAAGAAGAAAAGAAAAAATAAAAATTATAGCTGTGACACTCTGTGTAACAGAACATTGACTGGCACTTTTCCTATTTGCCCCAGA R CTGTAGCTAAGGCCCATGAGACCTGGAGCCAAAGGCTTAGGGAAGGACCACAGAACAGCAGGGGTCAGAGTGGGCCTTGTTGGAGCCAATGTGCAGCCTG Celera SNP ID: hCV3121945  Public SNP ID: rs4617229 SNP Chromosome Position: 122520517 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 127605 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 392): TTGAACTCAATAAATATGTATGGAATGAGCATGGTTCCAATGACACATTTTAGCACAAGTTGTTTGCAGTTAATATGACCATTGATAAGCATTTCTTTGA R TCATAGTTTCTTCACATGTAGAAACTGGGTAATAATCTGTATCCTACCCTATCCAAACAATTCCAGGAGTATTTATGTTGCCAGTTTTCATCCTCAGTTG Celera SNP ID: hCV3121960  Public SNP ID: rs966397 SNP Chromosome Position: 122493133 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 100221 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,42|A,78) SNP Type: TFBS SYNONYMOUS;INTRON  Context (SEQ ID NO: 393): CAGACATTTAAAAAGAAATATAAATATTTTATTGAACTCAATAAATATGTATGGAATGAGCATGGTTCCAATGACACATTTTAGCACAAGTTGTTTGCAG Y TAATATGACCATTGATAAGCATTTCTTTGAGTCATAGTTTCTTCACATGTAGAAACTGGGTAATAATCTGTATCCTACCCTATCCAAACAATTCCAGGAG Celera SNP ID: hCV3121961  Public SNP ID: rs966396 SNP Chromosome Position: 122493102 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 100190 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 394): TAAAATAAAATCCAGGTATAAATACAAATAAAAATGTACAAGGAACCTATAAGATAGTTACAACCTTTACCATAGAGGGTATAAAATAAGAAAATAGAGG Y ACAGAGAAATTAATTTTCCCAAGGTCAGATGGTCATGACCATCTTTAAGAGCAGTGTGAAGAAAGGACTAGAGAAGGTAGACTAGGGCTACAGGTTTATT Celera SNP ID: hCV3121962  Public SNP ID: rs4837790 SNP Chromosome Position: 122486146 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 93234 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,42|T,78)  SNP Type: INTRON Context (SEQ ID NO: 395): CCAAGATGCAAGACAAAGTCCGCTTTACTCTTTGCATCCTCTCCTTAAACAAAAGGAAGGAGTCACTTTTGTTGCTGCGAGATGCACTGCCTGGGGTTGG S GGAGGGATGGCACAAGACAAGTTTACTTATATGTGCATTTCTTTTTATAATAAAAATGGGTTATGTGCCTAATGAAAAAAAAAAAGAATGCATTTGACTC Celera SNP ID: hCV26144235  Public SNP ID: rs1886337 SNP Chromosome Position: 122483597 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 90685 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,42|C,78) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 396): ACAATTTATACTCCCATCAGCAACGGAATAATGGTCTCACTGTTCTATATTCTCGCCAATACTTGACGCTATCAGCTTTTACATTTTTGCCAATCTGGCA S CTTGAAGTAGCATCACAACATGGTTTTAAATTGCATTCTTCTGATTAGTAATGAGATGGAACATCTTTTCACCCTTACTGGCCATTTGAGTTTCCTCTTT Celera SNP ID: hCV3121966  Public SNP ID: rs1158553 SNP Chromosome Position: 122440795 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 47883 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 397): GGGTAGAGTAGTCAGTAGGCAATATTTGGGCATGATCAATTTTACTGGGCAATGCCTATTTTCCAACAGGGTGGTAACAATTTATACTCCCATCAGCAAC R GAATAATGGTCTCACTGTTCTATATTCTCGCCAATACTTGACGCTATCAGCTTTTACATTTTTGCCAATCTGGCACCTTGAAGTAGCATCACAACATGGT Celera SNP ID: hCV3121967  Public SNP ID: rs1158554 SNP Chromosome Position: 122440719 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 47807 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,42|A,78)  SNP Type: INTRON Context (SEQ ID NO: 398): CAATTATACCAACCTTTGTAGTATATTAAAAATTGCATACACAATGCATTTAGCACAGTGTCTGGCACATACTCAGTACTCAAAAATGAAAGCAACTATG R ACATGATGACAGTGATCCTAGATCTTAAATATTTTCTGAGAATTCTAAGGAAAGTAGGTTAGAATTCCCAGTTGGCAAAGACAGGGAAGACTAAGTTACT Celera SNP ID: hCV3121972  Public SNP ID: rs7357638 SNP Chromosome Position: 122429025 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 36113 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,42|A,78)  SNP Type: INTRON Context (SEQ ID NO: 399): AAAGAAAAAAAAAAGGCTGTGAACAGACCACTTATGCTTATCCATAGATTTGAAATGAAAGAACCAAAACCCACAGCTTCATAACTGGAGAATAAATGTG K AGAACTGGATTTTAAATAGAAATCAGACATCTGTACTATGAGATCAGCTAACAATTTAAGATAAAATTTGCTTATCTGGTCTTAATGACATGTTGCTAGT Celera SNP ID: hCV3121975  Public SNP ID: rs1981021 SNP Chromosome Position: 122428214 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 35302 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,42|G,78)  SNP Type: INTRON Context (SEQ ID NO: 400): ATCACTTTCCTCTCTTTTTAGATCTCCAATTACATTTATGCTAAACCTTTTGGCTGTGTCCCACATCTTCCCTGCTCTGTTCTTTCCATTATATTTTCTC Y AAATGCTTCAGTTTGGATATTTTTAATTGTACTGTATTCAAGTCTTCTAACTTTGTCTTCACTGTGTACAATCTACTGTTAGATTAATGCAATGAGTTAT Celera SNP ID: hCV3121979  Public SNP ID: rs3903886 SNP Chromosome Position: 122423467 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 30555 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (C,79|T,41) SNP Type: INTRON;INTERGENIC;UNKNOWN  Context (SEQ ID NO: 401): GAGCCGAGATCGTGCCATGTACTCCAGCCTGGTGACAGAGCAAGACTCGGTCTCAAAAAAAAAAAAAAGATTTTTAGTACTTCTCTTTGTAATCTTTCCT Y ATTTACAGGGGTTTGGCTTTTGTTTTTTAACTAGTCTAATTATATGGCATAAGTTATTTTATACCTTGCTTCTTTCACTTTCTCATATTGCTATATATCA Celera SNP ID: hCV3121981  Public SNP ID: rs10739570 SNP Chromosome Position: 122421043 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 28131 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,41|T,79)  SNP Type: INTRON Context (SEQ ID NO: 402): ATTAAAATTTAAAAACCACACTAAGCGCACTAAGCAAATGGATACAGAGTACACTAACCAGATGGATATAAACATGAGGTAAAAATTAAAATGTGGATTG Y GAGGGTATAGGGGAATTTTACACTCTGCTTGTCTCTGTGGAGGGAGGGGGGTAAAACAGGACTACGGAGGAAAAGAGGACCTCAACTTTATTGAAATTTT Celera SNP ID: hCV3121982  Public SNP ID: rs7861679 SNP Chromosome Position: 122415410 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 22498 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,43|T,77)  SNP Type: INTRON Context (SEQ ID NO: 403): AGCTACTTTATAATTTAGGTATTATACTTTGTATTTCTAATGGCAGCATAGTTTGGTGGAAGGACTAAAGGCTTTGGAATCAAATAGAAGTGTGTGGCTA S AGATAAGTAAATTTTTTTAAAGCTCGGTTTCCTTATCTGTAAAATGTGAATAATAACATCAACTTTGCTGAGTTCTTGGGAAGGATTAAATGAAATAATA Celera SNP ID: hCV3121985  Public SNP ID: rs959558 SNP Chromosome Position: 122408732 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 15820 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,43|G,77)  SNP Type: INTRON Context (SEQ ID NO: 404): GTGCTTATGCCTAGCATTACAACTTGACTTTAAATCATTTAGCTTTTGGACTAACTTAGATCTGAAGCCCTGGGCTTACTTTCTAGGGCTGCTGCTGCAG Y AACAAGTAACAATTCCTACCCACATAGCCCAAAATATAGGAACCAGGGATGTTCATTATAAGTGGTGTTATGTTCACCAAGCATCCTAAAAAGTGTAGGA Celera SNP ID: hCV3121987  Public SNP ID: rs10616 SNP Chromosome Position: 122403354 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 10442 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,41|C,79) SNP Type: UTR3;TFBS SYNONYMOUS  Context (SEQ ID NO: 405): ATAAATCTTAACCAGAATTAATTATCTTACTCTGAACACCCTTATCTTCCCACTGAATAGAATACAAGAATTAAAAAGGTCCTCACAGAGAACATTTAAC K AAACTTCTTGGATTTACCAGTGGAAAAACTGAGATCCAGATGGATTCAGCGGCCTGCCCAAGTTCACTCTACAAGTGCATAACAGAGCAAGAATAGACCC Celera SNP ID: hCV3121993  Public SNP ID: rs7042649 SNP Chromosome Position: 122392924 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 12 Related Interrogated SNP: hCV22272588 (Power=.6) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (G,43|T,77) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTERGENIC;UNKNOWN Context (SEQ ID NO: 406): TGAAGTTCTAATGGATAAACTTTCAATACTAACCAAGTTCACTGGTTATTTATTATTTCTATAGTCAGTCTAATATCTTCATTATTCCCTGAACATACTC Y GGTTAGTCCTGTCTCTGAACCTTTGCTTATTCTGTACATCTTGGAATGCTCTTTTTCACATATTCAAACCTATTCTCTATTTTAAGAATCAGCTGAAACT Celera SNP ID: hCV7577356  Public SNP ID: rs1530370 SNP Chromosome Position: 122464373 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 71461 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,42|T,78)  SNP Type: INTRON Context (SEQ ID NO: 407): TAAAGGCTCCCTGTGACCTGACCCCAACAGGACTTACCAGACTCATCTCCTGTCCCCACTCCTCTTCCACTTGACATCTTCAGTAAGCCCATCTCTGAGA Y GTTAATCTTGCTGTTTGCTGTCTGTAAAGTCCTTTCTCATCTTTTTTCACTTCTGTATGTCTAAATCCTTTCCTTCCTTCAAAGCTGGGATCAAAAGCTA Celera SNP ID: hCV7577357  Public SNP ID: rs1547267 SNP Chromosome Position: 122448557 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 55645 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,41|C,79)  SNP Type: INTRON Context (SEQ ID NO: 408): TTGTAGCCCAGGTCTGATTTCTAGATTTATATTTCCATAGGCCAGTACCTAAACTGATGAGTCATACTCACCCACAGCTAGCCTTGCACTTACATTGAGA Y GCTCACACTGCCATATCTAATTTTGCCTATTCTATTTCAGGGTACAGTGGGAAGAGACTTGGAGCCGGACAGATCTGGGCTCAAATCTAAGTTCTGCCAT Celera SNP ID: hCV7577359  Public SNP ID: rs1324473 SNP Chromosome Position: 122444431 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 51519 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 409): AGTCTACATCTCTGTCCTAAATTCCAAACTATATACTAACTTCCTGTACACCTGGATCCACAAACATCTCAAACTTAACATGTACAACACTGTCCTCAGT R TCTTCCCTTCCTGAGTCCTGTCTTCCTCCAATGTTCCCTAGATCTCAGTGAATGGTACCAACATCTACCCACTTGCATAAGCCAAAACACTGAGAATCAT Celera SNP ID: hCV7577376  Public SNP ID: rs1359329 SNP Chromosome Position: 122410806 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 17894 Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,26|G,94)  SNP Type: INTRON Context (SEQ ID NO: 410): TAAAATATTGTTTTAACAAAAACTTCCTCCATCCCTCCCAAACTTAAATGTGGGTACTCTGCAGACTTCTATTCTTGGTTTCTTTCTCTTCTCTGCTCAT Y TTCCATGGGTGGCCTCATCCACTGACATCATCAACAATTCCAATATGTGTATGTGTATCTCTAGTCTACATCTCTGTCCTAAATTCCAAACTATATACTA Celera SNP ID: hCV7577377  Public SNP ID: rs1359328 SNP Chromosome Position: 122410643 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 17731 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,38|C,82)  SNP Type: INTRON Context (SEQ ID NO: 411): TTTATTTATCAGATACTAACCAAAGTAAGTGATCTTTCTACTTAAATGCTACTGTATGCTTAAAACTCCAGAGAATCTAATTCATTCTTTTTCTATTATA Y TTTACTAAAACAAATAAAAATCACCCCAAGTCCCTACTAGTTTTCTCAAATGCTTTCTATACATACATACATACACACACACACACACACACACACACAC Celera SNP ID: hCV11297574  Public SNP ID: rs10760113 SNP Chromosome Position: 122513871 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 120959 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 412): CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATG R CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244  Public SNP ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 130468 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE MUTATION;ESE;UTR5;UTR3;PSEUDOGENE Context (SEQ ID NO: 413): TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGGCACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTG R TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCATAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245  Public SNP ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 130530 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE MUTATION;UTR3;TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO: 414): GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGC R TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGACGAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246  Public SNP ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 130577 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type: MISSENSE MUTATION;UTR3;INTRON;PSEUDOGENE Context (SEQ ID NO: 415): TGAACCACTTGCAATCAGTGAAGACGTCTTTTTCTTTATACAAATTTCTACTCACTCTTCAATATCAATCCAAATGCAACTGCCTCTCTTAAGATCTCCC Y GAATGTTTGCAAGTCTATCTTTGCAAGTCCACTAGCCAGTAAGTTCCTTGAGAATAGAGGTAATATCTTTTGACATATGGTTGGCAAATGCAATGTCTTT Celera SNP ID: hCV27912345  Public SNP ID: rs4142158 SNP Chromosome Position: 122450640 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 57728 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,41|T,79)  SNP Type: INTRON Context (SEQ ID NO: 416): AGAGATAAAAAAAAAAAAAAAGAACACCAGGAGGCTATGATCATATTTAATATTTTATCTCAAAAATGAAAACAATCCAAAGCAAATACAGGAGAAAATT S AGATATTACAAAGCTGGGAGGCAGGTATACAGGGGATGTTCACTATATTACTTTTTATACTTTTCAGAAAACTTATTTCATATTTTTTAAAATGAAGAAT Celera SNP ID: hCV30419540  Public SNP ID: rs10491783 SNP Chromosome Position: 122489976 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 97064 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,42|C,78)  SNP Type: INTRON Context (SEQ ID NO: 417): AATTGCATCAATAAACAAAACGGCATGAAATTTCAAGGGTTTCTCAGAACCTCTGAAGCCTATGTAAAATTGACACCTCTCTTGAATAAGAAATATTATC S TATCCACTGAATAGAAGTTTTGTTGCCATACTTCAACAAATAAGTTCACATACCAACTCTTGTATTGTCAACTACCTTTTGTACATAAACCATCACTTAC Celera SNP ID: hCV30830175  Public SNP ID: rs10739569 SNP Chromosome Position: 122400848 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 7936 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (G,42|C,76) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 418): CAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAACGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTATAC R GTGCGACTCTGTCTCAAAATAAAATAAAATAATGAATAAAATAAAGGTTAAAGTGAACTGCCTAAAGTTACATGATTACCTAAAAATACCCACCATGATT Celera SNP ID: hCV30830228  Public SNP ID: rs7024046 SNP Chromosome Position: 122458999 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 66087 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,42|A,78)  SNP Type: INTRON Context (SEQ ID NO: 419): GAGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAGATAATGCCAAAGAGATTCTTACACTAGGAAAGAAGTAAATATTTCAATACGAAGAAATGAAATT S AGGTTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGAAGTTCAAGACCAACCTGGCCAACA Celera SNP ID: hCV30830259  Public SNP ID: rs7044226 SNP Chromosome Position: 122506149 SNP in Genomic Sequence: SEQ ID NO: 82  SNP Position Genomic: 113237 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,41|C,73)  SNP Type: INTRON Gene Number: 6  Gene Symbol: PHF19 - 26147 Gene Name: PHD finger protein 19  Chromosome: 9  OMIM NUMBER: OMIM Information:  Genomic Sequence (SEQ ID NO: 83):  SNP Information Context (SEQ ID NO: 420): ACCTGCCCATCCTCCCTCCTGGGGTATGAATTCTCAAGGGGATGACTCATGTCCTAAGTACCTTCCTAAGTCAATATACAACCAGATTTGATCATCATCA M AGGTGGGCTTGGGGTTCATGGTCAAGGGCAGATGCCAGGAGTAAGAGATGGAAGGACAGAAGGAAGAAATGAAGGCAGCAGAGGAGAGAAGACCTGGGGA Celera SNP ID: hCV25751916  Public SNP ID: rs10985070 SNP Chromosome Position: 122675942 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 28190 SNP Source: Applera Population(Allele,Count): Caucasian (A,17|C,19) African American (A,10|C,22) total (A,27|C,41) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;UTR3;INTRON SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,64|A,56) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;UTR3;INTRON Context (SEQ ID NO: 421): AAACCTACATGGCCGAAATAGCCCCAAACAACAAATTGCGTAGAGACACAGTGCACAGAAATACATGGTACAATCGCAAATATATACCACACGCACAACA Y GTCATGTAAATAAAGGGCACACAATGAAAGACAACATGCACAGAGTCATAGGAATGGCAGATGGAGTCAGTGGGCAGAGCTCCAATCATAGGGACCCTGC Celera SNP ID: hCV1761888  Public SNP ID: rs1953126 SNP Chromosome Position: 122680321 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 32569 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,52|C,68) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 422): CTCACCTCTGAGGCTACAGGCCAGCTCCACCCATTACTGGCCATGGGAGCCTGAGTGTGTCACTTCTTTCTTTCTTTTTTTTTTAAACAATTCTTGCTCC M GAGACTTTAAGTCTTAAGCCTCCGTGTCCTCACCTAAATAGAGTTATTGGGAAGGTTAGAGTTAATGTATGCAAAGCCCCTGGTGCCCAGTAGGTGTGCA Celera SNP ID: hCV1761891  Public SNP ID: rs1930778 SNP Chromosome Position: 122681190 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 33438 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,42|C,60)  SNP Type: INTRON Context (SEQ ID NO: 423): GATGGGCACGGAGTCGAGTCTGTCAATATAGGGGGGTGGGGGGTGAGGATGTCGCACAGTTGGGACCCTCAAATACCTATGGAGATATGAACTGGTAAAA Y GATTTTGGAGAACAGTTTGGCAACTTGTAAGAAAGTGGAAGATACTCATAGCTACAATTCAATGACTCCACTCGTCATTCAGCGCATAATTGTGAAAATT Celera SNP ID: hCV1761894  Public SNP ID: rs1609810 SNP Chromosome Position: 122682172 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 34420 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,45|T,57)  SNP Type: INTRON Context (SEQ ID NO: 424): CAGAGATGTATGCCATGCCACTTTTGTCAGGTCCCCAGCAGTCCTCTTGAGTTTTTTAATTGCCAAAATTTATTTTAAAATCCTTCTGTTTGAGTGTTCC R TGACATGTGACCTTCTTATGAGTTTCAGAGGTAATCCCTGCCTGGGTGGAGGAATACCTAAGTGACCTTCAGGACCTCTTTCAGCTTGGAGAAGCGGAAA Celera SNP ID: hCV2783582  Public SNP ID: rs10818482 SNP Chromosome Position: 122687906 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 40154 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,64|G,56)  SNP Type: INTRON Context (SEQ ID NO: 425): GATGGAGACCAAGGGCCTTGTATCAGTTGGAATTCTTGATTATGAGCAACCAGGACCAACTCTGTCCATCCAAAGCAAAAGGGGGACTTTCTGGAGGGTA S TGAAGGTACACAGAATGAACAAGAGGCTGGAGAACAGGCTTGGACAAAGGGCAGGACCAAGAGAGGAATTCTGGCCAAGGGAAGGCTGCAGGCACAGTCT Celera SNP ID: hCV2783586  Public SNP ID: rs2270231 SNP Chromosome Position: 122690803 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 43051 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,52|G,68)  SNP Type: INTRON Context (SEQ ID NO: 426): GCAGGAGGACTCGCTCCTAATTCCTTCCTGGTTCCGAGTCAAAGGATGAGGCCCTGAATCTGTTAAAGAGAAACCACAGCTTTCAGATAACAGACAAACA Y GTCTTTAACACACGCAATCTTTGATTCAAATGATTTCAAAGGGCATGGGGGAGGGAAGGGTTTTTGTGAGCTTTAACCGAAGCCGCTCATCAGAATGTCA Celera SNP ID: hCV2783589  Public SNP ID: rs881375 SNP Chromosome Position: 122692719 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 44967 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,52|C,68)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 427): GACAATAGCCCTGCCATTTCCTAGCGACTGGGACCTTAGCCAAGCTGACTAACCTCTCTTAGCCTCAGTTTCCTCGTCTGTACAATGGGGACAATCTCAG Y GCCACCTTATCAGAGTTGCTGGGAGGATTGAGTAAGATGATGTAAAGTGCCTAGCATGTAACAGGCACTTAATAAGTGGCAGCTGTGATTATTTCAACAC Celera SNP ID: hCV2783590  Public SNP ID: rs6478486 SNP Chromosome Position: 122695150 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 47398 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,52|C,68) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 428): AAACTGAGGCTCAGGGAGTCTACAAATCCTGGCCAAGGACAGTGGCAGAGGCGCTATCTGTCTCCAAAGCCCAGGTGTGGCCCTTCTGCTTGGAGCTCAG R CTCTGTGATGGGAGTCTCTGGTCTGCCCCACTGGAGGAGGCAGGAGAGGCAGGGACTGGGGAGGATGGAAGGCTCACCCGCACAGCCAGTGCGAAGATGC Celera SNP ID: hCV8780517  Public SNP ID: rs1056567 SNP Chromosome Position: 122671866 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 24114 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,43|G,77) SNP Type: ESE;UTR3;SILENT MUTATION;INTRON  Context (SEQ ID NO: 429): TGTGCTATCTTCCCAGGTGGTGCAGACACCCCCTCCCTCCTTTTCCCTCTCCAGGCCCACAGCCTCCCCAGAGCCCAGGTAGGGAAGGTCCAGATGTACT R TAACAGGATTGCTCATCCCAGGCTATCTCAGAAGTCTGGAAAGCAGGCCTAGAAGGTTGCTGGGCTCTCTGAAGCCAGGCAGGAAGCTACAAATTGGATC Celera SNP ID: hCV8780962  Public SNP ID: rs1837 SNP Chromosome Position: 122658050 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 10298 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,39|G,81) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 430): CACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTTGGAAAAAAAAAAAAAAAAACAAAGCAGGAGAGGTCTGGCCAAAGTCCTGCAGGAAAGAC K CATTCAAGATGAAGTAGTAAATCAGCACATGAGCCATAAGTGGGTCCAGGCCTCTGCCCCTCCCTTGCCCAGAGATGTATGCCATGCCACTTTTGTCAGG Celera SNP ID: hCV11266268  Public SNP ID: rs10760121 SNP Chromosome Position: 122687736 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 39984 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,52|T,68)  SNP Type: INTRON Context (SEQ ID NO: 431): CACAAAATCTCCCAATCCTGGAGAGCACATTTTCAAGTCCCAAAGGGGCCCTAGGATTGTGCTACTTAACCATGTTCTGCCAAGAGAAGGTGTGTCCAAC R CGGGTAGGGCTGATGATGGGAGCAGAACACTCCCACTAGCTTCTAAGCTGGCTGGGTCTGCCTTCAGGATGCTGGGGGACAGAGATGATAGAGCGAAGTG Celera SNP ID: hCV11720421  Public SNP ID: rs1930777 SNP Chromosome Position: 122680989 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 33237 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,108|A,12)  SNP Type: INTRON Context (SEQ ID NO: 432): CCACTAGCCAGGCAGGATAAGATGCCATGGAAGGATTTAGCTCCACTAGGATTTCACAGTGATGGTGGCCTTGGGAGGTGGGTGCTAGTTTTATCCTTCC Y CAAAATGGGGAGCTCCTCCAAAAAGGAACCAGAATTTTAAGGTGGGGGTGGATGCTGGACAGATCATAAGTGACAGCTAAACCTCTTGGAGCTATTGCCC Celera SNP ID: hCV15870898  Public SNP ID: rs2072438 SNP Chromosome Position: 122691122 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 43370 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,64|C,56)  SNP Type: INTRON Context (SEQ ID NO: 433): GCTGCATTGACTATTTGCGAGATATTTTGTCTTCTTGTTTTTTATCAATTAGGTCTACATACTACATTCAATTAGAGATTTTGATTGATATGATTAAAAC W GTGTGATCATAAAAGACTGACTCAGATATAGTTAATTAAAGATACCTTTAAAGTTTTCCCCACGTTAAAATACAGAGGTGTCATTTTATTAATGAACTCC Celera SNP ID: hCV29006006  Public SNP ID: rs7034390 SNP Chromosome Position: 122686309 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 38557 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,52|T,68)  SNP Type: INTRON Context (SEQ ID NO: 434): TATTTCTTAGAAAAAAAAATTAAAATCTGAGGCAAGTATGACCAAGTGTCAAGATGTAACAGAGCTGGGTGGTTGATCCATAGTTGTTCTCTCTGATCCT Y CTCCTTCTCAAGTCTAAAACTTTTCCATGTTTGAGATATTTGGTGATTTTAAAGGTGGGAGGGGCAGGAAGCTATGAGGAGATTGCAGCAGAGGAGGTTT Celera SNP ID: hCV30830638  Public SNP ID: rs10985073 SNP Chromosome Position: 122683676 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 35924 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,64|C,56)  SNP Type: INTRON Context (SEQ ID NO: 435): CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTAAAGTAAACCCTACCTAAAATGTACTG K GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCTTCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528  Public SNP ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 6942 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP Type: UTR5;PSEUDOGENE  Context (SEQ ID NO: 436): CACTTCCCGCAGATGAGGATCTCATTCAGCGGCCCTGATGTCTTCCCTAGGCAGATGTTGCACTTGGGCTCCTCTCCTGGAACACCGGCTGAAAGAGAGG S CCTCGAGGGTCGGGTCCAGCTCACAGGAATGGAAGTTTTATACTCACATTCCAGATGCCCAGCCTCTAATGTCTGCTAGGCCTAGCGCTGGGCCCCACAT Celera SNP ID: hCV25757804  Public SNP ID: rs4836833 SNP Chromosome Position: 122672650 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 24898 Related Interrogated SNP: hCV8780517 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) Related Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP: hCV25612709 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,28|G,12) African American (C,23|G,13) total (C,51|G,25) SNP Type: INTRON;PSEUDOGENE  SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,43|C,77) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 437): TTTCTCATTTCCTTCCCTCTCTCCCTTACACCCTCAAAAGAGAGAGACATAATATACATTCTCAAGGTCATATAAGCTATATAATGAAAGCTACCTTTTT Y TCCCCAGTGATGTTATTTCCTCAGTGGCTCACACCATCTGTAGTCATAGTTCCCAAATTTGGCCATGCGGTCTATCCCTGAACTCCAGCCTCAATCTATT Celera SNP ID: hCV1452665  Public SNP ID: rs4837796 SNP Chromosome Position: 122650109 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 2357 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,58|T,62)  SNP Type: INTRON Context (SEQ ID NO: 438): AAAATTGCTTTTAGTCTACAGGTCCCCTCTCCATCTCTTTTTTTCTTTGCATTTTATTTTGGTTGAAGAATAAATATGTTTTTATGTGTGAAAGGTTTGT R TGTATACATTAAACACATTTTGATACGTGTTTGTCTTATTTCCCCAGCATGCTGAAAATTTTGTAAGGGTAGAAATGGGATCTCTTCGGCCGGGCGCAGT Celera SNP ID: hCV1761881  Public SNP ID: rs3933326 SNP Chromosome Position: 122673769 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 26017 Related Interrogated SNP: hCV22272588 (Power=.7) Related Interrogated SNP: hCV8780517 (Power=.7) Related Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV25612709 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,44|G,76)  SNP Type: INTRON Context (SEQ ID NO: 439): CCCAATTTTGGTTTCCCTCCAGATGAGGCAGAATTTGAATGTTGGTTCCAAAAATTCTCTTTCAAACCCCCACTGGCAAGGGCTTCCCTTTGAGGGAACC R AATGATGCAGGCTCTTTAAAAATTTCAACCTATCCCAAAAAGTGATTGTCCATTTCAGGGCAGGGCAAGGGATATGAAAGAGGGTGAGTCCCCTGTGCTT Celera SNP ID: hCV8780961  Public SNP ID: rs914842 SNP Chromosome Position: 122658792 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 11040 Related Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51) Related Interrogated SNP: hCV25612709 (Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,30|G,90) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 440): GTCCCTCCACATGCTCTCCACTACAGCCACACACAGCCTCTCTCTTTCCCCGCGGGCCTACTCGGGTCTCCTCCTTGTGGCCATGGCGCTGGGCACCTGG Y GTTGTGACTATCTGTTCACAGGGAGAGAGTCCAGTGCCTGTTTCTGTGTGGTGCGTGTGTGTACTCCTGTGAGACTGGGCAGGATGATGTCTACGGCATT Celera SNP ID: hCV16186951  Public SNP ID: rs2297574 SNP Chromosome Position: 122678090 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 30338 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,118|C,2)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 441): TACACACCAGCCATAGGCATAGATACACAAGGGGGAACACACTGTACACAACAGAGACACACAACAGAACATGCATGTAAGGTAGACGGACATAACACAT R AAGTCACAACACAGACGGGCAAGAGACACAAGTTTTCCTGAAAAAGTGGCATTCAGATAGGTTGTGGAAATAGGTTAGTGGGTGTGCCAGGTGGAGGGAA Celera SNP ID: hCV30830909  Public SNP ID: rs11794516 SNP Chromosome Position: 122680051 SNP in Genomic Sequence: SEQ ID NO: 83  SNP Position Genomic: 32299 Related Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP: hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795 (Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP: hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783604 (Power=.9) Related Interrogated SNP: hCV2783633 (Power=.9) Related Interrogated SNP: hCV2783638 (Power=.9) Related Interrogated SNP: hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783625 (Power=.9) Related Interrogated SNP: hCV2783653 (Power=.8) Related Interrogated SNP: hCV2783655 (Power=.8) Related Interrogated SNP: hCV11266229 (Power=.7) Related Interrogated SNP: hCV2783590 (Power=.7) Related Interrogated SNP: hCV7577344 (Power=.7) Related Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP: hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783621 (Power=.7) Related Interrogated SNP: hCV2783634 (Power=.7) Related Interrogated SNP: hCV2783620 (Power=.7) Related Interrogated SNP: hCV11720414 (Power=.7) Related Interrogated SNP: hCV16175379 (Power=.6) Related Interrogated SNP: hCV30830725 (Power=.6) Related Interrogated SNP: hCV2783641 (Power=.6) Related Interrogated SNP: hCV2783618 (Power=.6) Related Interrogated SNP: hCV1761888 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783586 (Power=.6) Related Interrogated SNP: hCV2783597 (Power=.6) Related Interrogated SNP: hCV2783589 (Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related Interrogated SNP: hCV15849116 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (A,64|G,56) SNP Type: MISSENSE MUTATION;ESS;INTRON  Gene Number: 7 Gene Symbol: PSMD5 - 5711 Gene Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 Chromosome: 9  OMIM NUMBER: 604452  OMIM Information: Genomic Sequence (SEQ ID NO: 84):  SNP Information Context (SEQ ID NO: 442): ACAAGGTCATGGTTAACAAGACTGCCACCCATAAAATAGTTTCTACAATGTAGTTAACCCACCAGCAAATGAACTTACATATTGAACCCCTGTCAAAGAT K AAGATATCCCTGAACAGGGCCAAGTCATACCAACCTGTTTTCTGTAAAACCTGTTTTCCTTCAACATTGGATCCCAAGATTCCAACTGTGTCTACAGCTA Celera SNP ID: hCV22272588  Public SNP ID: rs10760117 SNP Chromosome Position: 122626558 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 18406 SNP Source: Applera Population(Allele,Count): Caucasian (G,21|T,17) African American (G,12|T,24) total (G,33|T,41) SNP Type: MISSENSE MUTATION;INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,58|G,62) SNP Type: MISSENSE MUTATION;INTRON  Context (SEQ ID NO: 443): CAACTCTATAGCCCTATGGGCTTTTTGAATAACCAAATGCTCAACAGTTCTGTAATCTTTCAGGTTGCTGTGATCAGTCCCCAAGGAGTCTACACTCTCA M AGAGACTGGGAAAGGCCTGTGAGACAATGGGATTCTTTTTTCTAGAGGTGTAACTCTGCCTGTGTTTGCATGCCACCTCCAGAACCACTAAAATATAATT Celera SNP ID: hCV1452662  Public SNP ID: rs10985051 SNP Chromosome Position: 122647701 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 39549 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,93|C,19) SNP Type: UTR5;UTR3;INTRON  Context (SEQ ID NO: 444): CTCACTGCTGGTTTTGTGTGTGTGTGTGTGTGATTTAAAATTACATTCAGTCAACTCTATAGCCCTATGGGCTTTTTGAATAACCAAATGCTCAACAGTT Y TGTAATCTTTCAGGTTGCTGTGATCAGTCCCCAAGGAGTCTACACTCTCAAAGAGACTGGGAAAGGCCTGTGAGACAATGGGATTCTTTTTTCTAGAGGT Celera SNP ID: hCV8780967  Public SNP ID: rs933003 SNP Chromosome Position: 122647650 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 39498 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,115|T,5) SNP Type: UTR5;UTR3;INTRON  Context (SEQ ID NO: 445): GGAGGTCGAGGCTTCAGTGAGCGGTGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGCTTTCCCCTCTTGTCCTCCACTACCCTCAG R AAACCAAGAAAGACCAGCGTGGAGAGTTGGTCGCCCATCTGCTCTAAGCTGCTGTGTATTCCCCTGTAATGTAAACATCGTGAAGGTGGAGACCCAGTTA Celera SNP ID: hCV26144018  Public SNP ID: rs10739575 SNP Chromosome Position: 122645922 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 37770 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,29|A,91)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 446): CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTAAAGTAAACCCTACCTAAAATGTACTG K GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCTTCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528  Public SNP ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 46542 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP Type: UTR5;PSEUDOGENE  Context (SEQ ID NO: 447): AGGACCTATGGAAGTGAATACCTACCGTAAACACTTTTAAGGCAGCACAGTGTAGTTCAGGGAAGGGCTGACTACTAATGCCACGGAAGAGCTCCAGTGG R TCCCGAGATAAAGAAGAAAACCAGGATTCTGTCATCCTCAGAAGGTCATCAGTCTGCTGCTCAGGCTACAGGAAAGAAAAGGAAAATCTCATCAAAAGTT Celera SNP ID: hCV1452652  Public SNP ID: rs1060817 SNP Chromosome Position: 122623013 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 14861 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,16|G,16) African American (A,22|G,12) total (A,38|G,28) SNP Type: UTR3;SILENT MUTATION  SNP Source: Applera Population(Allele,Count): Caucasian (A,6|G,16) African American (A,18|G,12) total (A,24|G,28) SNP Type: UTR3;SILENT MUTATION SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,57|G,63) SNP Type: UTR3;SILENT MUTATION  Context (SEQ ID NO: 448): TGCATTGAGACTATACAGAATCATGGTTAAGAACACAGACTGTGTAGTCAGACTGCTTCGATTCAAAGCCCAGCTCTGCCCAGCTGTGTAACCTTGGGCA R TTTTCTTAACCTCTCTGTGCAGTCATTGCCTCGACTGTGAAATGGGGTAAAAATAATATGTGGCTCATAGGGTTCTTAACGGAGTTCAATGAGTTAAAAT Celera SNP ID: hCV1452630  Public SNP ID: rs10818476 SNP Chromosome Position: 122611859 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 3707 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,58|G,62) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 449): AAATGCAACATATGAGAACCAACATTGTTTAACTCAACCTTGTCAATCTGGGCAAAGTGTGCTGAAGACAAGGAGTTAGTCCTTGACGAGTGAGTAAGAG K TTAAGAAGCAAAGTTAAGGAAGAGTGTTAGATACGGAGACCCCAGCAAAGGTCCAGAGACACAAAACAAACAGTTTGGTACCACTGGAGCATTAGGTGCC Celera SNP ID: hCV1452651  Public SNP ID: rs3793638 SNP Chromosome Position: 122622518 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 14366 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,57|T,63)  SNP Type: INTRON Context (SEQ ID NO: 450): TTTCTCATTTCCTTCCCTCTCTCCCTTACACCCTCAAAAGAGAGAGACATAATATACATTCTCAAGGTCATATAAGCTATATAATGAAAGCTACCTTTTT Y TCCCCAGTGATGTTATTTCCTCAGTGGCTCACACCATCTGTAGTCATAGTTCCCAAATTTGGCCATGCGGTCTATCCCTGAACTCCAGCCTCAATCTATT Celera SNP ID: hCV1452665  Public SNP ID: rs4837796 SNP Chromosome Position: 122650109 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 41957 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,58|T,62)  SNP Type: INTRON Context (SEQ ID NO: 451): AATCAAAAATAAAAGTTGTCCTACTATTTTCAGACCCACTTCCCTATTAATAGTTTCTGGTGTACCTTTGCAGATATTTGCAATGTTATACAAGTTTTAC M TGCCTGTGGGGGTTGGGAAGATTGTAATCCTTTTTAAAAATTACAGGTTAAAATTATAGATTGATATACCCTGCGATTTTCTTTTTCATTCAACAACACA Celera SNP ID: hCV30829523  Public SNP ID: rs12343516 SNP Chromosome Position: 122643290 SNP in Genomic Sequence: SEQ ID NO: 84  SNP Position Genomic: 35138 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,57|C,63) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON  Gene Number: 8 Gene Symbol: RAB14 - 51552 Gene Name: RAB14, member RAS oncogene family  Chromosome: 9 OMIM NUMBER:  OMIM Information:  Genomic Sequence (SEQ ID NO: 85): SNP Information  Context (SEQ ID NO: 452): AAACTTTCACTATTTTCTGATTTGTCATTGAATTCCTTCCCGCAGTGGCGTCAAAAGCCTGGACACCAGCCGGGGCCGAGGTCCTGCAGGTATTTGGGGA M CTCCCCTAGCCCACTGATATCTGCATCATTAGTATTCTTACTATTCTCACCTCTCAGAGATCACAGTAGGTGAAGCTCTTCCCATACTTTCTGTCACTGT Celera SNP ID: hCV2644  Public SNP ID: rs747846 SNP Chromosome Position: 123022431 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 52194 SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (A,35|C,85)  SNP Type: INTRON Context (SEQ ID NO: 453): TATTTTTGCTGTAGAGGGAAACACTATCTCTATCCTCCAAGCCTGCCCTACAAACATCCTTGAAAAGACAGTCTAGGACAAAGGGCAGTCAGTGCCTATG Y TCACAAAATGTACAGAAACATGAGACCCATGGAAGGTCATCTCCCAACAGGGGCAGGATTTTTTGTATTGTAGAATATAGTACTGTATTTGGTGGAGGGA Celera SNP ID: hCV3045812  Public SNP ID: rs7030849 SNP Chromosome Position: 123009655 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 39418 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,64|T,56)  SNP Type: INTRON Context (SEQ ID NO: 454): AACAATATTCTTAGCACACATCACCATACTTAAATTTTATTGAGTTTTTAATTATGTGAAGTCTTCAGAAATGCATTCCTTATAAAATCAGACAGTTCTG Y GTAGGCGGCCAGGTTTATTAACAGTCTTCCCATAATACTCTTGATCATATCACAGATTGCCTGGCTATAATGAAGGGCATTAAGGCTTGTTTCCCTTTGA Celera SNP ID: hCV7577254  Public SNP ID: rs942152 SNP Chromosome Position: 122991506 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 21269 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,65|T,55)  SNP Type: INTRON Context (SEQ ID NO: 455): TGTTCTTTAACCTATGTAATGCTGCTTTACCTCAGCTAGAACCGATAGAATCTAAGTATTTGGGAGAGGAAGTAGAAACACAGTGATGAACTGTAAGGTT W TCATAGGCCAGTGGTGGCAGGAAAGATTTGGGATACTGGAAAAGTAGGCTGAATGTCAGGTAAGGAATTGTTTGGCTCAGAACATGTTGACTTTGAAGGC Celera SNP ID: hCV15757738  Public SNP ID: rs2302498 SNP Chromosome Position: 122976150 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 5913 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,63|T,57)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 456): TCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAGTATGTAAACTTTTGAGATTGGCTTTTTTACTGGGTATGATGCCCTTGAGA M CCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAGTAGTACTCCACTATAGAGATGTTCCGAACTGTTTAACCATTCACCTGTCA Celera SNP ID: hCV30830538  Public SNP ID: rs10760152 SNP Chromosome Position: 122987806 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 17569 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,47|C,71)  SNP Type: INTRON Context (SEQ ID NO: 457): ATTTCCTGATAAAAGCTCATCTTACCACTGATAACACAGTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTATAAAGCCAAGTGAGACACAAGCCTTG Y TCCTGAGAAACTCAAGTCACAGCTCAGTGTGTCTTTCCTCACATTGTTCCTGGCATACCCTCAACAATATCTACTGAAACTTCACTCACCCCTCAAGGAC Celera SNP ID: hCV30830539  Public SNP ID: rs10760153 SNP Chromosome Position: 122988196 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 17959 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,74|C,44)  SNP Type: INTRON Context (SEQ ID NO: 458): CTAAAAGGCACTTCAGCCATTAACTTTTTTTCATGTAAAATTACAGCTCCTGGCTCTTCCACTTTCAAAAATGTGTGTCCATAAACCAAATAATCATTTT K ATCTGAATGTAAACCTCATGCAAGGACAGTTAAGTAGTACAACAAAAGTGAGCATTCTTTAAACAGTGTGGACAAAGTGCCCACTGTGAAGGGGAAGAAA Celera SNP ID: hCV30830536  Public SNP ID: rs7047038 SNP Chromosome Position: 122986768 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 16531 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|G,72)  SNP Type: INTRON Context (SEQ ID NO: 459): GTGCCTGCAGGAAGATGGGACTGACAACTCCCTGGATATCTATCTGTTTGGGCAGCACTGATCTGCTCTGCCCTATTGCTTCCTGCACAAAGGAGAACAC W GATGGAGAGAGACAGCACTGGAGGGGCTTTGGATGGTGTGGGGAGAACCTTAGATGAAGAGGGGCTGAAGTTGCTTCCCCTTATCCCTTCCTCCCACCTT Celera SNP ID: hCV29752541  Public SNP ID: rs9409230 SNP Chromosome Position: 123007581 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 37344 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,107|T,13) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 460): TTAGGCACTATAATTATAATTAGTCAATATCTTTATTCTAAGGCAGCATTTCCCAAAGTGTGTTCCTCAATAAAATAAGCTTAGGAAACACCAAATTAAA Y AAAGTCATACAGCAAAGAATTTCTTACTGCAGAACTTCCCAGAGTCTTAATATGCTAACGCACATTATGACACATCAAGAGGAAACCTTTTAAGGCATTT Celera SNP ID: hCV30203282  Public SNP ID: rs9408928 SNP Chromosome Position: 122991738 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 21501 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,105|C,15) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 461): TATTACAGGAAGAACAGATTGACCAAGCTTGTCTGAGATGCCAAACTCAACCTCACTTGTGAAAAGTCAAACACTGTCATTTGGGAAAAGTCAAACACTT Y TGAAATGTAAACAAAGTTTCATTTATTAACCTGGGTTACCAACAGGCATAATCAAGGTACAATCTTTTAAGTAACAAAAATTCATATTATTTTGAAATGT Celera SNP ID: hCV15751717  Public SNP ID: rs2296077 SNP Chromosome Position: 122984764 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 14527 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,21|T,15) African American (C,9|T,27) total (C,30|T,42) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,63|C,55)  SNP Type: INTRON Context (SEQ ID NO: 462): TTCCATCCTGAATGTTCTGATAGATTTTCTTGGCAGCCTCAAGGAAGGCATCTTCTACATTCTCTCCCCTAAGAGGCAATTGATAACTTTATTGGAGAAC Y ACAGTTTTCTACAAAAGACAAGACACTGACCTTTTGCTAATCTTTAGTTAACTGCCATGATGTCTCCAACTTAACCACTGTCATCTAATAAGAGATTACC Celera SNP ID: hCV15751718  Public SNP ID: rs2296078 SNP Chromosome Position: 122983705 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 13468 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,23|T,15) African American (C,29|T,9) total (C,52|T,24) SNP Type: INTRON;PSEUDOGENE SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,75|T,45) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 463): CTCAAATCATTCAACTGAAGCTGCTTTTCAGAACTGTATTCTTCTATTAGCTTCACCCAATAACTAACTCCCTAAATTTTTCTTCAGTCATAAAAACTTT Y GGAAAATATCAATGTGTTATATCAAGTTTTACATGGCAACTTAAGAAACCATAAAAAACAAGTAAGTTCATTCACAGTCATACAATTACAAACTAAAAAA Celera SNP ID: hCV25613469  Public SNP ID: rs10760157 SNP Chromosome Position: 122992475 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 22238 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,22|T,12) African American (C,13|T,19) total (C,35|T,31) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,48|C,72)  SNP Type: INTRON Context (SEQ ID NO: 464): AAGATGTAAGAGTAGTTGTATGGTGCAGTTGCCATGGTGGCACTAAAAACAAAGAAATCTCTGTTACTTCAGAAGGAAAGCATATACAAGTAATTCAAAC R GATGACTGATATCCTTTAAAGGTAGAAAAGGACACTGAATACAAACAAATGTTGGTTACAGTAAGTCAAAATAAAACTGCATTTCACAAACTGATCAAAT Celera SNP ID: hCV3045808  Public SNP ID: rs10818516 SNP Chromosome Position: 122995577 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 25340 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,15|G,23) African American (A,9|G,27) total (A,24|G,50) SNP Type: TFBS SYNONYMOUS;INTRON;PSEUDOGENE SNP Source: dbSNP; Celera; Applera Population(Allele,Count): Caucasian (G,71|A,45) SNP Type: TFBS SYNONYMOUS;INTRON;PSEUDOGENE  Context (SEQ ID NO: 465): AAGAAAGAGTAGAAAGAATTCCATTTTAAGTATTTCAAATCTGTTATTTAACAAATGATACATGCAGCAAATTTCTCCTAATAAGACAATCAATTCCTGT R ACAGAAAGTCAGAGAATAAAAAGATTAAGTTTGACATTATTTTATGTATTTTTAAAAATTATTTTAACATCAAGAAATCAAAACAAGCAAATCAGATTAT Celera SNP ID: hCV7577249  Public SNP ID: rs1359085 SNP Chromosome Position: 122993977 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 23740 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (A,19|G,9) African American (A,22|G,8) total (A,41|G,17) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,75|G,45)  SNP Type: INTRON Context (SEQ ID NO: 466): ATAATTGCCAAAAGATACTCTTAAAGTATATTACCTATGAGCTTTGGGAATAATGATCTACTTCATCTCAAGTGTCAAAAAAATCATATTAACAGTTCTT Y TGTCCAGATTTGGCATAGTGAATGGTACCAGAATACAGGTGTTTGCTTTTAGGTCAGTTTGTTCTCTCTTGAACCATATATAAATGAAGTTGACGTGGGA Celera SNP ID: hCV782875  Public SNP ID: rs746182 SNP Chromosome Position: 122970786 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 549 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,62|C,58) SNP Type: INTRONIC INDEL;INTRON  Context (SEQ ID NO: 467): AGGTTGACCAGGCTAGTCCTGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCTACCGTGCCTGGCT Y ATAGAGAGTTTATTTTTATTTTTATTTTCAAGACAGAGTCTTGCTCTGTCGCCCAGTCTGGAGTGCAGTGGCATGATCTCAGTTCACTGCAACCTCCACC Celera SNP ID: hCV3045804  Public SNP ID: rs2057467 SNP Chromosome Position: 122972543 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 2306 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,66|T,26)  SNP Type: INTRON Context (SEQ ID NO: 468): TGGCAAAAGTAACTTTGATGGTCTTCTATATACAGGAAATAAAGTATTCTAATACTGGACCTCTGTTTACAGAAAGAAAGCACTTAACAACCAAAAAGCC R AAAAAAACCCCTGCACTTACTGCTCAAGTTAAAAGGATTAATAGTGAAAATTTTACTACCGATATTGTGTCTGAGATTTGCTTCAAAATAATTTGGCAAG Celera SNP ID: hCV3045810  Public SNP ID: rs2209076 SNP Chromosome Position: 123001226 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 30989 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,74|G,46)  SNP Type: INTRON Context (SEQ ID NO: 469): GAGTGTGGCATAATGACACAAGCTAACCATCTGCTGGAAGATATAGCAAATGTGTGAGGGGTCACCTGTTCCTGGGAAGATGCCTGGAATCCTCCAGGTG Y GCAGGTTGTTTGTCACCTGCTCTGGCTTCATTTCTGCTTGTATTTTTATAAATTGTTTTGTAAAAAGTAGATGTTATTTTATCCTTCATCTCTTCCCAGA Celera SNP ID: hCV7577235  Public SNP ID: rs1052508 SNP Chromosome Position: 123007832 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 37595 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,75|C,45) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON;PSEUDOGENE Context (SEQ ID NO: 470): AAGCCTTGTTACCCATTCCAGTTTGGCATGTTCTAACACATTTATAATCAGTCTCCTGCATCACAGAAAACTCCCTTAACCAGTTCTTTCAGGAAAGGGA S TTTTTCTAGTTAGATTAACTGATTCTGAACATCACAACAACTTTATTCCCTTTTCCAGGCACTAGGAACTCAAAACTTTTAAGAATGAACTTGGTCCTGA Celera SNP ID: hCV7577248  Public SNP ID: rs1359086 SNP Chromosome Position: 122997121 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 26884 Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) Related Interrogated SNP: hCV29824827 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,46|G,74)  SNP Type: INTRON Context (SEQ ID NO: 471): TTAATTATGTGAAGTCTTCAGAAATGCATTCCTTATAAAATCAGACAGTTCTGCGTAGGCGGCCAGGTTTATTAACAGTCTTCCCATAATACTCTTGATC R TATCACAGATTGCCTGGCTATAATGAAGGGCATTAAGGCTTGTTTCCCTTTGAGGCCACCCAATTCTAGAATTTACTGAAAACTTTAGGCACTATAATTA Celera SNP ID: hCV7577250  Public SNP ID: rs942153 SNP Chromosome Position: 122991553 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 21316 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,48|G,72)  SNP Type: INTRON Context (SEQ ID NO: 472): TCAACATTGTACTGGAAGATCTATTTAAGCATAAATAGTACTAAGCACCAATTACTAATCTGAAGGCCTCCTCACAGGTCCAAGGGCAATGAGCAACCTC R AGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATTAAAAATTAAAAGGATTTCACATTCTTTCCAAAGTGTACTGCCCGGTGTCTGGCACACGCATGT Celera SNP ID: hCV11720348  Public SNP ID: rs2057470 SNP Chromosome Position: 122980943 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 10706 Related Interrogated SNP: hCV2783620 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,45|G,73)  SNP Type: UTR3 Context (SEQ ID NO: 473): TACTCCATCAAACACGTTATTATCCATAAAAAAGACTTCAACATTGTACTGGAAGATCTATTTAAGCATAAATAGTACTAAGCACCAATTACTAATCTGA R GGCCTCCTCACAGGTCCAAGGGCAATGAGCAACCTCAAGAGGCAGGTGACTGCACAAGCAGTAAGCTATGGATTAAAAATTAAAAGGATTTCACATTCTT Celera SNP ID: hCV11720350  Public SNP ID: rs2057469 SNP Chromosome Position: 122980906 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 10669 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,48|G,72) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 474): TTCTCTAAAATGCCACATGAACCCTCTCTATATTCCCACATGAAGAGGAATGGAAGGTAATTATTTGGTCTTTTCTTCTGTTTAGGGGAATGAACTGAAC S ACTCATTTTTTTAAAATCACACTTAAAAGACACATGGGCAAAAAAGTTCCCCAAAACTACTGTCTTACCGAATTTGAGAAGGGAGGTAATGTATGAAGCT Celera SNP ID: hCV11720351  Public SNP ID: rs1885995 SNP Chromosome Position: 122980617 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 10380 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783655 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV7577317 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,65|G,55) SNP Type: UTR3 INDEL;UTR3  Context (SEQ ID NO: 475): GTAGCTTCCCCTCTCTGGGCCTCAATTTTCCTATCTGGAATGTAGAGAGGTTAGTTGATCTTTTCAGTTCAATTTTATTTTTCAGACCAAAGGACCACAG Y CTTGCAGGGCAGTTCAAGTAGATGGGGCTCTATCTCCTCTTCCGTTCTCTCCCAATAACCACCTCCCCACCAAAAGAAAAAACCCATAGCAAAAAAATAT Celera SNP ID: hCV16110109  Public SNP ID: rs2078141 SNP Chromosome Position: 123013845 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 43608 Related Interrogated SNP: hCV29824827 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,79|C,41)  SNP Type: INTRON Context (SEQ ID NO: 476): AAGCACAGGCGCACAGACCCAGACCCCGGCCCCGGCCCGGCCCGGCTGCAGGGCCGGGCTCCCCACATCGACAAGGACACCGGAGCTGCCCCGAGACGCC R AGAGGGCTGCGAAGAGCTGCCTTTGTACTCAGAGCCAGACGCGGCCTACGGGACGGGACCGCCACGTCTGGGGCTTGCGGGCTGCAGGGCGGCGCGGCAC Celera SNP ID: hCV16234838  Public SNP ID: rs2416819 SNP Chromosome Position: 123003235 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 32998 Related Interrogated SNP: hCV2783620 (Power=.6) Related Interrogated SNP: hCV11266229 (Power=.51) Related Interrogated SNP: hCV11720414 (Power=.51) Related Interrogated SNP: hCV1761894 (Power=.51) Related Interrogated SNP: hCV2783586 (Power=.51) Related Interrogated SNP: hCV2783634 (Power=.51) Related Interrogated SNP: hCV29005978 (Power=.51) Related Interrogated SNP: hCV30830725 (Power=.51) Related Interrogated SNP: hCV7577344 (Power=.51) Related Interrogated SNP: hCV29006006 (Power=.51) Related Interrogated SNP: hCV2783641 (Power=.51) Related Interrogated SNP: hCV2783621 (Power=.51) Related Interrogated SNP: hCV2783590 (Power=.51) Related Interrogated SNP: hCV2783597 (Power=.51) Related Interrogated SNP: hCV2783618 (Power=.51) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (A,48|G,72) SNP Type: MISSENSE MUTATION;INTRON  Context (SEQ ID NO: 477): AGTCTTTTGGGTGACCCCACGTGGCCATTCTAGTTTCATCTGTGCTTCCAATCCCCTGATGCCCCACATATACCCACCATTTAATTCAAGAAAAAATAAC Y AAAAAAAAATTATTTAAAGACCACAAGCCCTTAGTGATTTTGCCTTTGCAAATTTGGTAAGGCAATTAGCAGTAGGTATAAATTTCATATTTCACTAAGC Celera SNP ID: hCV26144332  Public SNP ID: rs4837813 SNP Chromosome Position: 122974284 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 4047 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,62|T,58)  SNP Type: INTRON Context (SEQ ID NO: 478): TTACACAAGCCAGACATTTAATATGACTGGAGAAATTTATTTACTGAAATTATCACCTTACTATATACCATATTTCAAGCAAAAGTTCTATATAACAACA Y TGAACCCGTAGAAAGAATATATATTTAAAACAAGTGTATTATTATAAGGGAAGAGGAAGTTGTTAATTACAGTAAAGTATTAATCACTTCCACACACTAC Celera SNP ID: hCV29005955  Public SNP ID: rs7036980 SNP Chromosome Position: 122996877 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 26640 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,60|C,60)  SNP Type: INTRON Context (SEQ ID NO: 479): GTTCTTGAAGGAGGCCTCTACCAAATGTTGGGGGTATAAAGCCAAGTGAGACACAAGCCTTGTTCCTGAGAAACTCAAGTCACAGCTCAGTGTGTCTTTC Y TCACATTGTTCCTGGCATACCCTCAACAATATCTACTGAAACTTCACTCACCCCTCAAGGACCAGCTCAAACACCACTCCTCTGTAAAGCTGCTTTCTCT Celera SNP ID: hCV30830540  Public SNP ID: rs10760154 SNP Chromosome Position: 122988234 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 17997 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,75|T,45)  SNP Type: INTRON Context (SEQ ID NO: 480): CTTCAATCTACTTTGCAGCACAGTTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGGACCAAGGATCCATGTTTATCTTTGTA W ACTGCAGAGTCTAGCATGGTGGCTAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAATGTTTTAACACATATAGAATCCTTTTT Celera SNP ID: hCV30830541  Public SNP ID: rs10760155 SNP Chromosome Position: 122988499 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 18262 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,75|A,45)  SNP Type: INTRON Context (SEQ ID NO: 481): TTATCTGCATATCTGCTGGTTCTCTCCCTGCTAGACTATAAGCTCTTTGGGACCAAGGATCCATGTTTATCTTTGTATACTGCAGAGTCTAGCATGGTGG Y TAGCCTTTAAAATCTCAATAAATATCATCTCAGTCTGGTTAAGAAGCTAATGTTTTAACACATATAGAATCCTTTTTATTTTTGACTGAAATTTTTATCC Celera SNP ID: hCV30830542  Public SNP ID: rs10760156 SNP Chromosome Position: 122988522 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 18285 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,75|T,41)  SNP Type: INTRON Context (SEQ ID NO: 482): TGGCAATCACTAATCTACTCCCCATCTCTACAATTTTGTCATTTTGAGAATGTTTTCTAAATGAAATCATACAGTATGTAAACTTTTGAGATTGGCTTTT K TACTGGGTATGATGCCCTTGAGAACCAGCTCAACTGCTGCATATATAAAGAATTCATTCCTACGTACGGCTTAGTAGTACTCCACTATAGAGATGTTCCG Celera SNP ID: hCV30830537  Public SNP ID: rs10818515 SNP Chromosome Position: 122987782 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 17545 Related Interrogated SNP: hCV29824827 (Power=.6) Related Interrogated SNP: hCV11720383 (Power=.51) Related Interrogated SNP: hCV11720402 (Power=.51) Related Interrogated SNP: hCV30167357 (Power=.51) Related Interrogated SNP: hCV30830539 (Power=.51) Related Interrogated SNP: hCV7577337 (Power=.51) Related Interrogated SNP: hCV30830506 (Power=.51) Related Interrogated SNP: hCV16234785 (Power=.51) Related Interrogated SNP: hCV1632190 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,73|G,45)  SNP Type: INTRON Context (SEQ ID NO: 483): AAATGTGATATTTTTCACAATTTGTCTACCACCTGCCATCTTCCAACTTGCTCTGCCATAATCACTGCCCCAGAAGGTTTCGTGCTTTTCGGGTGCAGGG R CACGTTTTGACTTTCTTGGACCCTGAGCACTTTTGCCTTGTGGCTTGTACATTACACACACACATATATTTCACACACATGTAAGTTAAATATATGTATA Celera SNP ID: hCV29879049  Public SNP ID: rs9792437 SNP Chromosome Position: 123004722 SNP in Genomic Sequence: SEQ ID NO: 85  SNP Position Genomic: 34485 Related Interrogated SNP: hCV11720413 (Power=.6) Related Interrogated SNP: hCV15870898 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.6) Related Interrogated SNP: hCV25751916 (Power=.6) Related Interrogated SNP: hCV2783582 (Power=.6) Related Interrogated SNP: hCV2783604 (Power=.6) Related Interrogated SNP: hCV2783608 (Power=.6) Related Interrogated SNP: hCV30830638 (Power=.6) Related Interrogated SNP: hCV2783625 (Power=.6) Related Interrogated SNP: hCV2783633 (Power=.6) Related Interrogated SNP: hCV2783638 (Power=.6) Related Interrogated SNP: hCV2783653 (Power=.51) Related Interrogated SNP: hCV2783655 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (A,64|G,56)  SNP Type: INTRON Gene Number: 9  Gene Symbol: TRAF1 - 7185 Gene Name: TNF receptor-associated factor 1  Chromosome: 9 OMIM NUMBER: 601711  OMIM Information: Genomic Sequence (SEQ ID NO: 86):  SNP Information Context (SEQ ID NO: 484): TGTTCTGCCTATGCTTAGGTAAGACATTAGGAAGAACTTCCCTGAGTACTGTGATGACTTAATAGTAGGCTCTGATGCTTGGGAAAGTCATTAGTACAAA S GACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAGACCTGGAGGTCTGGAACCATAGTGGATAGATCTCCTTTCTC Celera SNP ID: hCV16234795  Public SNP ID: rs2416804 SNP Chromosome Position: 122716217 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 55095 SNP Source: Applera Population(Allele,Count): Caucasian (C,20|G,18) African American (C,12|G,26) total (C,32|G,44) SNP Type: INTRON  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,62|C,58)  SNP Type: INTRON Context (SEQ ID NO: 485): ACCTGCCCATCCTCCCTCCTGGGGTATGAATTCTCAAGGGGATGACTCATGTCCTAAGTACCTTCCTAAGTCAATATACAACCAGATTTGATCATCATCA M AGGTGGGCTTGGGGTTCATGGTCAAGGGCAGATGCCAGGAGTAAGAGATGGAAGGACAGAAGGAAGAAATGAAGGCAGCAGAGGAGAGAAGACCTGGGGA Celera SNP ID: hCV25751916  Public SNP ID: rs10985070 SNP Chromosome Position: 122675942 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 14820 SNP Source: Applera Population(Allele,Count): Caucasian (A,17|C,19) African American (A,10|C,22) total (A,27|C,41) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;UTR3;INTRON SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,64|A,56) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;UTR3;INTRON Context (SEQ ID NO: 486): GGACAGCAACAATGTTCTCAAACACACGCAGCTTCCCCTCCAGCTCAGCCAGAAGCTTCTCCTTCATGAAGTGCTGCAGGGCCAGCTCCTCCTGGCTCTC R GAGCAGGGTGCCCGGTAGCAATCGACCTCCAGGTCCCCCGCCACTTCCACGGCTGCCTGCAGCTGCAGGTCTGACAGGTTCTGCTCCAGGGCCATGGGCC Celera SNP ID: hCV25763321  Public SNP ID: rs3747841 SNP Chromosome Position: 122715622 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 54500 SNP Source: Applera Population(Allele,Count): Caucasian (A,1|G,37) African American (A,3|G,35) total (A,4|G,72) SNP Type: ESE;SILENT MUTATION;PSEUDOGENE SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,114|A,2) SNP Type: ESE;SILENT MUTATION;PSEUDOGENE  Context (SEQ ID NO: 487): GAAACGCAGAAGCCAGAGGCAGTTGGGAAGTGCTGGACTTTGCAGATGTGGGACTGGGATCCAGTGGTCAGGCATGCCCAAGGTCAGCGGCTCAAAACCA K GAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGGAATGGGCTCTTGGGGGTCATCTAGCTTAGTGTTTGTCAGCTGGCCATCC Celera SNP ID: hCV25766419  Public SNP ID: rs12377786 SNP Chromosome Position: 122711580 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 50458 SNP Source: Applera Population(Allele,Count): Caucasian (G,0|T,36) African American (G,4|T,34) total (G,4|T,70) SNP Type: INTRON  SNP Source: Applera Population(Allele,Count): Caucasian (G,0|T,38) African American (G,5|T,33) total (G,5|T,71) SNP Type: INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,117|G,1)  SNP Type: INTRON Context (SEQ ID NO: 488): CAAGGTCAGCGGCTCAAAACCATGAAAGATGGGGTTAGAACCCAGCATTCTTCTCGAGTAGGGTGTCAGACAGGAATGGGCTCTTGGGGGTCATCTAGCT Y AGTGTTTGTCAGCTGGCCATCCAAGTCATACACTGCCGGGCCCCACCCTCAGAGTTTCTCACTCAGTGACCCTGGGGTGAGAACTGAGAGTTGGCACTTC Celera SNP ID: hCV2783618  Public SNP ID: rs2239658 SNP Chromosome Position: 122711658 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 50536 SNP Source: Applera Population(Allele,Count): Caucasian (C,23|T,13) African American (C,27|T,11) total (C,50|T,24) SNP Type: INTRON  SNP Source: Applera Population(Allele,Count): Caucasian (C,24|T,14) African American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,51|C,69)  SNP Type: INTRON Context (SEQ ID NO: 489): GTCATTAGTACAAAGGACATCCAGATGAGTGGACTGATGTTACGGGAAAATCATGGAGGGGCTGCAGTGGGGAGACCTGGAGGTCTGGAACCATAGTGGA Y AGATCTCCTTTCTCACACTCAGATGCTTACCTTGAAGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAGCCTCAGCCACCTCGGGGTGAGCCTGG Celera SNP ID: hCV2783621  Public SNP ID: rs2416805 SNP Chromosome Position: 122716303 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 55181 SNP Source: Applera Population(Allele,Count): Caucasian (C,24|T,14) African American (C,27|T,11) total (C,51|T,25) SNP Type: INTRON  SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,51|C,69)  SNP Type: INTRON Context (SEQ ID NO: 490): AAACCTACATGGCCGAAATAGCCCCAAACAACAAATTGCGTAGAGACACAGTGCACAGAAATACATGGTACAATCGCAAATATATACCACACGCACAACA Y GTCATGTAAATAAAGGGCACACAATGAAAGACAACATGCACAGAGTCATAGGAATGGCAGATGGAGTCAGTGGGCAGAGCTCCAATCATAGGGACCCTGC Celera SNP ID: hCV1761888  Public SNP ID: rs1953126 SNP Chromosome Position: 122680321 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 19199 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,52|C,68) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 491): CTCACCTCTGAGGCTACAGGCCAGCTCCACCCATTACTGGCCATGGGAGCCTGAGTGTGTCACTTCTTTCTTTCTTTTTTTTTTAAACAATTCTTGCTCC M GAGACTTTAAGTCTTAAGCCTCCGTGTCCTCACCTAAATAGAGTTATTGGGAAGGTTAGAGTTAATGTATGCAAAGCCCCTGGTGCCCAGTAGGTGTGCA Celera SNP ID: hCV1761891  Public SNP ID: rs1930778 SNP Chromosome Position: 122681190 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 20068 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,42|C,60)  SNP Type: INTRON Context (SEQ ID NO: 492): GATGGGCACGGAGTCGAGTCTGTCAATATAGGGGGGTGGGGGGTGAGGATGTCGCACAGTTGGGACCCTCAAATACCTATGGAGATATGAACTGGTAAAA Y GATTTTGGAGAACAGTTTGGCAACTTGTAAGAAAGTGGAAGATACTCATAGCTACAATTCAATGACTCCACTCGTCATTCAGCGCATAATTGTGAAAATT Celera SNP ID: hCV1761894  Public SNP ID: rs1609810 SNP Chromosome Position: 122682172 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 21050 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,45|T,57)  SNP Type: INTRON Context (SEQ ID NO: 493): AGAACCATCTAGATGAGGAGTTTGCTAACCTTTTTTATGTAAAGGGGTGGATAGTAAATATTTTGGGCTATGAAGTCTTTGTTGCAAGTACTCAATTTTA Y ATAATTTTCATGTGTCCCAAAATATCTTTTTTTGTTTTTTTGAGACAGGGTCTCATTCTGCTACCCAGGCTGGAGTGTAGTGGCACGATCATGGTTCACT Celera SNP ID: hCV2359565  Public SNP ID: rs1014530 SNP Chromosome Position: 122724913 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 63791 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,63|C,57) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 494): CAGAGATGTATGCCATGCCACTTTTGTCAGGTCCCCAGCAGTCCTCTTGAGTTTTTTAATTGCCAAAATTTATTTTAAAATCCTTCTGTTTGAGTGTTCC R TGACATGTGACCTTCTTATGAGTTTCAGAGGTAATCCCTGCCTGGGTGGAGGAATACCTAAGTGACCTTCAGGACCTCTTTCAGCTTGGAGAAGCGGAAA Celera SNP ID: hCV2783582  Public SNP ID: rs10818482 SNP Chromosome Position: 122687906 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 26784 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,64|G,56)  SNP Type: INTRON Context (SEQ ID NO: 495): GATGGAGACCAAGGGCCTTGTATCAGTTGGAATTCTTGATTATGAGCAACCAGGACCAACTCTGTCCATCCAAAGCAAAAGGGGGACTTTCTGGAGGGTA S TGAAGGTACACAGAATGAACAAGAGGCTGGAGAACAGGCTTGGACAAAGGGCAGGACCAAGAGAGGAATTCTGGCCAAGGGAAGGCTGCAGGCACAGTCT Celera SNP ID: hCV2783586  Public SNP ID: rs2270231 SNP Chromosome Position: 122690803 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 29681 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,52|G,68)  SNP Type: INTRON Context (SEQ ID NO: 496): GCAGGAGGACTCGCTCCTAATTCCTTCCTGGTTCCGAGTCAAAGGATGAGGCCCTGAATCTGTTAAAGAGAAACCACAGCTTTCAGATAACAGACAAACA Y GTCTTTAACACACGCAATCTTTGATTCAAATGATTTCAAAGGGCATGGGGGAGGGAAGGGTTTTTGTGAGCTTTAACCGAAGCCGCTCATCAGAATGTCA Celera SNP ID: hCV2783589  Public SNP ID: rs881375 SNP Chromosome Position: 122692719 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 31597 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,52|C,68)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 497): GACAATAGCCCTGCCATTTCCTAGCGACTGGGACCTTAGCCAAGCTGACTAACCTCTCTTAGCCTCAGTTTCCTCGTCTGTACAATGGGGACAATCTCAG Y GCCACCTTATCAGAGTTGCTGGGAGGATTGAGTAAGATGATGTAAAGTGCCTAGCATGTAACAGGCACTTAATAAGTGGCAGCTGTGATTATTTCAACAC Celera SNP ID: hCV2783590  Public SNP ID: rs6478486 SNP Chromosome Position: 122695150 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 34028 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,52|C,68) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 498): CAAGTAGCACGTCGGGATTTGAATCCGGGTTAAAGGACTCCACGTCCAGTGCTCTTTCTATCCAAACTCCAGAGGGAGGGGACCCTGCTGACACCTTAAT S TACCCTGGCCTCCCTGGAGGCTTTTCTCATTGGAATCCCAGAGTTACTAAGACTTATAAAGGATAGAACTGTCCCCTTAATCCCGGGCATGGGGGCTAAT Celera SNP ID: hCV2783591  Public SNP ID: rs1468671 SNP Chromosome Position: 122697323 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 36201 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,51|C,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 499): CCCACAGCCCACCCCTGTGAAGTGTTAGGCCTTTGGGAAGAAGGCCCAGGCTAGATGACTTGCTTTCAAGCCCCAGCGCTGCCACCTCCTAGCTTGTAGA K ACCTCCTCGCCTTGGTCTTGTCATCTGCAAATATGCGGATTACGATCATATGTACTTGCCAGGGATATTGGGAGCTTGCTCACAGGCTCTCAGAAGCCCC Celera SNP ID: hCV2783597  Public SNP ID: rs1860824 SNP Chromosome Position: 122699160 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 38038 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,47|T,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 500): AGAGTGAGACCCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAATATTAAATTCTCTTTCTGATACTAAGTCTTTGAAATCTGGTGTATATTTCAGACAGA R CATCTCAATTTGGATCAGCCACATTTCACGTGTTGTGTGAGTTTCAAACAATCTCTCTAAGATTGTTTGTTTTGAGACGAAGTCTTGCTCTGTCTCCCAG Celera SNP ID: hCV2783599  Public SNP ID: rs7046108 SNP Chromosome Position: 122700160 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 39038 SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (G,51|A,69) SNP Type: MISSENSE MUTATION;INTRON  Context (SEQ ID NO: 501): GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTTGACTTCATTTTCTTAGTTTCTGTGTCTTTGCCTGGAAGAAGGGGCTAATGG Y AGAATGTGATAACAGGATGTTAAGTGAAAAGGGAGAGCCCAAAACAGTAATCAATATGATTCTAATTACATTTTTAAAAGTCAATCTACATGTATGTGTT Celera SNP ID: hCV2783604  Public SNP ID: rs10760126 SNP Chromosome Position: 122702439 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 41317 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,62|C,56)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 502): CCTAACGATTTGAGCAATGGAGTCTGGCACAGGCTCAGCAGGTGGAGGAAGAGTAAGCTGTCAGGAAAGCAGCAGGGGAGAGTAGTAGGGTCCTGACTTG W CTCAGGGTCTTTGGAAAGTTGGGTGTGGCCTCCAAGGTGAGAAGATAGGTGTGGGCCACCACCAGGCCATGACAGGCGGGCAGTATTGCCCAGGCTTCTC Celera SNP ID: hCV2783608  Public SNP ID: rs4836834 SNP Chromosome Position: 122705722 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 44600 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (T,63|A,57) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;MICRORNA;UTR3 Context (SEQ ID NO: 503): CCTCCTGGGGCAAGGCAGAAGGGCCAGAACAGAGAGGTCTTCTACTGAGGGGCTGTCATCGATGTCCTGAGACATTTGTGGAGCTTCTGGTATACACAGC R CAGACGGAGGTTCCCCTGAGAAGCCGATTGTCTAAAAGTGACACAAACCCTCTTCCCTGGCACATGCCCCTGAAATGTCCATCAGGAAGCTGAATGGCTT Celera SNP ID: hCV2783611  Public SNP ID: rs10435843 SNP Chromosome Position: 122707854 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 46732 SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (A,51|G,69)  SNP Type: INTRON Context (SEQ ID NO: 504): ACCTGTAGGGAAGACTGTTCAGCCAGGAACACCAGAACCCGGCTTGGGGATGGGATGGGAATGGCGGGATGTGGAGATTGATCTGCCCCAGATGTGTTTT S CTGACCACGCCTCACTCAGGTGTGCGTCTGCATCTGAATGTGCTGCCCCCTGCCTGGCCTTCCTTTTCCTTATCCACCAGGAATCCAGCTCATATGGCCC Celera SNP ID: hCV2783620  Public SNP ID: rs7021880 SNP Chromosome Position: 122713711 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 52589 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,68|C,46)  SNP Type: INTRON Context (SEQ ID NO: 505): ACTGAATGTTATAGCGATCCCTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGATGGCTTGGGCCACATGACTTTGCACA Y TGCTGTTCCCTTTGGCTATCTCCTTTCCACCCTTTAAGCTTCCACCCTTCCATGACCTTCCTTCAAAACAGGACCTGGGCCCTTACTGTGATCCTGGGCA Celera SNP ID: hCV2783622  Public SNP ID: rs758959 SNP Chromosome Position: 122716520 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 55398 SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|T,69) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 506): TTGGCTTGTGGTCCCTTCCTCCATCTTCAAAGCCAGCAGTGGAGCATCTCCCCTTCTCTCTGACCCTCATCTCCCTCTTCTGAGGACACTTGGGCCTCCT R GATAATCCAAGGTCACCTCCCCATCTCAGAATCCTTCATTTAATCGTGTCTGCAGAGTCTGTTTTGCCATTGTTATGGGCTCAGCAACCCCCACCCAAAT Celera SNP ID: hCV2783625  Public SNP ID: rs10118357 SNP Chromosome Position: 122719889 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 58767 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,63|A,55)  SNP Type: INTRON Context (SEQ ID NO: 507): GGGTGCCTATAATTCTACCATGAATTATAGTGCCTTCACTTGGCTTAAGGCAGCAAGTTTCAAACTGTGCTCTGCAGGGCCCTAGGAGTCCCCAGAACCT Y TTAGGGGCTCGGATAGGAGAAAGAAATGGGGCAATTAACAGGTCGGGGCTCCAGGATCCCCCTCCATCAGAATGCTTTTACTTTCATCTGATTGAAAAAG Celera SNP ID: hCV2783630  Public SNP ID: rs2269060 SNP Chromosome Position: 122723390 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 62268 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,63|T,57)  SNP Type: INTRON Context (SEQ ID NO: 508): AGAGCCAAACAGTGAGGCTCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAGTGTAAAGTTCCAAGAACATGCATTTG K TCCTTACTCTTACTCTCTGAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCAGCTCTGGGTGGGACAGGAAATTCCCC Celera SNP ID: hCV2783633  Public SNP ID: rs7021049 SNP Chromosome Position: 122723803 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 62681 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,63|T,57)  SNP Type: INTRON Context (SEQ ID NO: 509): CCAGGGTTCTAAATTGTAGCTCCTGAAAATGTCTCTCTGGCCTATCACACTTCCAAATGTGTCTCTTATTCCTAGAAGCACCGTTTGACAGAGCTCAGGA S GTGAGCTGATAATGGTCTCTCCCCACCTAAAGGCAAACAGAGGCAGACAGAACCATCTAGATGAGGAGTTTGCTAACCTTTTTTATGTAAAGGGGTGGAT Celera SNP ID: hCV2783634  Public SNP ID: rs1014529 SNP Chromosome Position: 122724764 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 63642 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|G,69)  SNP Type: INTRON Context (SEQ ID NO: 510): CACCATCCACTCTCCTGACAGCTCCAGAAGCCTCAACTATCAGCAGGGTGGTGATCATGTACGTCCACAATCCCAGAGCCACAGTTCCTAAATCGCAAAA S TGCCGAGTATCCCACATTTTTTGGTAGTTTGCAGTGAGCTTCCTGGGCTGCCAAACCTGCCGTGACTGCACTGACCGGAAGCTATTATAGCCCTTACTTG Celera SNP ID: hCV2783635  Public SNP ID: rs1930780 SNP Chromosome Position: 122726040 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 64918 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|G,69)  SNP Type: INTRON Context (SEQ ID NO: 511): TCTTGTCTCATCTATCAAATGGAGAAGACAATCCCTACACATCTTTCCATCCTGCTTGGCTGCTACAGAGGTTTTGCAAACTTTCACAGTGGTTTCAGAT Y ATGGGTTTTGAGGTCAGACAGAGCTGAGTTGAAATCCTGGGTCCACTGCTTACTAACTGTGGGCCCTGGGACAAAGTCCTTAACTTCCCTGAAACTCAGA Celera SNP ID: hCV2783638  Public SNP ID: rs3761846 SNP Chromosome Position: 122729418 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 68296 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,63|T,57)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 512): TCCTGCAGCCAGCCCTACCTGTTCCCTCCTTCCCCTGGTTTGGGATAAAACAGGCACCCAAGACTTCTCTCCCCATCTGTGGGTCCCTTCTCTCCCCTCC R GCCTCAATACCACCCTCTCTACCTGCTCATTCCCACGGACATCAAAACGTGCGCAACCTGCTCTAATAAGAAAAGGGAAAAATAGTACTACTTTTGGGTA Celera SNP ID: hCV2783640  Public SNP ID: rs3761847 SNP Chromosome Position: 122730060 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 68938 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,62|A,58)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 513): GCACCCAAGACTTCTCTCCCCATCTGTGGGTCCCTTCTCTCCCCTCCGGCCTCAATACCACCCTCTCTACCTGCTCATTCCCACGGACATCAAAACGTGC S CAACCTGCTCTAATAAGAAAAGGGAAAAATAGTACTACTTTTGGGTACCGTCTTACGTAATTTTACAGACATCATCTCATCTAATTTTCACTCTGTGAAG Celera SNP ID: hCV2783641  Public SNP ID: rs2416806 SNP Chromosome Position: 122730113 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 68991 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,49|C,67)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 514): AATCTCCATCTTGGTTCTTATTACACTTATAATAACTAGCATTTTTAAAAACGTGCCTGTTTACAGGTTTTTTTCTTTCTACCACAGAATTATGAATACA Y GAAATTGTAGGAATATATGAAAATGTGTATAGGAATATATGAAATTAGATGAATTAAAACCATGAAAGTAAAGCTGTATCTGATTTCATTGTTGTTTCCC Celera SNP ID: hCV2783647  Public SNP ID: rs10739580 SNP Chromosome Position: 122735103 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 73981 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,51|T,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 515): GAATCTTGGGCTCACAATTCCCATCTGCATCCCTCCTTGGCCATCTATCCTTGACTGAGGTGTGTCCACTCCGCACAACTTTCCCTTCCAGATAACATCC W GCCTGAGGGAAGGGATACAGGAGGGTCTCAGTGCTATTATAATAGCAATTTGACCCCACTGTTAGCCTATTTAGGTCTGAAGCATTTACCAAATGCTTTC Celera SNP ID: hCV7577344  Public SNP ID: rs876445 SNP Chromosome Position: 122716923 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 55801 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69)  SNP Type: INTRON Context (SEQ ID NO: 516): AAACTGAGGCTCAGGGAGTCTACAAATCCTGGCCAAGGACAGTGGCAGAGGCGCTATCTGTCTCCAAAGCCCAGGTGTGGCCCTTCTGCTTGGAGCTCAG R CTCTGTGATGGGAGTCTCTGGTCTGCCCCACTGGAGGAGGCAGGAGAGGCAGGGACTGGGGAGGATGGAAGGCTCACCCGCACAGCCAGTGCGAAGATGC Celera SNP ID: hCV8780517  Public SNP ID: rs1056567 SNP Chromosome Position: 122671866 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 10744 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,43|G,77) SNP Type: ESE;UTR3;SILENT MUTATION;INTRON  Context (SEQ ID NO: 517): GCCCCTGAAATGTCCATCAGGAAGCTGAATGGCTTCCCGTTGCCAACTGAAGCATCCTCACCCTGCACATTAGGACCCCCTGCGGAGACTTCATCCTGAT K CTCAGGCCTTATCACTTACGGGGGTGAGATTCTGTCACTGGTGTTTTAAAAATCTCCCCAGCACCTTTGGGAACTGCCGGGGGTAGGAGAACCTACTGAC Celera SNP ID: hCV11266229  Public SNP ID: rs10435844 SNP Chromosome Position: 122708020 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 46898 SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (G,51|T,69)  SNP Type: INTRON Context (SEQ ID NO: 518): CACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTATCTTGGAAAAAAAAAAAAAAAAACAAAGCAGGAGAGGTCTGGCCAAAGTCCTGCAGGAAAGAC K CATTCAAGATGAAGTAGTAAATCAGCACATGAGCCATAAGTGGGTCCAGGCCTCTGCCCCTCCCTTGCCCAGAGATGTATGCCATGCCACTTTTGTCAGG Celera SNP ID: hCV11266268  Public SNP ID: rs10760121 SNP Chromosome Position: 122687736 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 26614 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,52|T,68)  SNP Type: INTRON Context (SEQ ID NO: 519): ACCAAGAGGTTTATATTTGTTATTATAAGGACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATGACACAGAAAACAGCTTTACAGACAAG Y GAGCTGCGGCTTAGGGACATTAGCAGAGCACCAGACCACACAGTGAGACAGTGGCCTCACAGCCTCGAGGCTCTCCTCGGTGTGGATGGCTTTCCCCTGT Celera SNP ID: hCV11720413  Public SNP ID: rs1930782 SNP Chromosome Position: 122727726 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 66604 SNP Source: dbSNP; HGBASE Population(Allele,Count): Caucasian (C,63|T,57)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 520): TCCCAGCAAACGGTCTGAGGTGATGAGCAATGCTGTGGAAGGAGAGATATTCGTCTAACAGTTTGTCATTCACCAAGAGGTTTATATTTGTTATTATAAG R ACTTTTGTGATTATTATTCATTGGGCTTCATTAACAATTCTATGACACAGAAAACAGCTTTACAGACAAGCGAGCTGCGGCTTAGGGACATTAGCAGAGC Celera SNP ID: hCV11720414  Public SNP ID: rs1930781 SNP Chromosome Position: 122727655 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 66533 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,51|A,69) SNP Type: MICRORNA;UTR3;INTRON  Context (SEQ ID NO: 521): CACAAAATCTCCCAATCCTGGAGAGCACATTTTCAAGTCCCAAAGGGGCCCTAGGATTGTGCTACTTAACCATGTTCTGCCAAGAGAAGGTGTGTCCAAC R CGGGTAGGGCTGATGATGGGAGCAGAACACTCCCACTAGCTTCTAAGCTGGCTGGGTCTGCCTTCAGGATGCTGGGGGACAGAGATGATAGAGCGAAGTG Celera SNP ID: hCV11720421  Public SNP ID: rs1930777 SNP Chromosome Position: 122680989 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 19867 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,108|A,12)  SNP Type: INTRON Context (SEQ ID NO: 522): CCACTAGCCAGGCAGGATAAGATGCCATGGAAGGATTTAGCTCCACTAGGATTTCACAGTGATGGTGGCCTTGGGAGGTGGGTGCTAGTTTTATCCTTCC Y CAAAATGGGGAGCTCCTCCAAAAAGGAACCAGAATTTTAAGGTGGGGGTGGATGCTGGACAGATCATAAGTGACAGCTAAACCTCTTGGAGCTATTGCCC Celera SNP ID: hCV15870898  Public SNP ID: rs2072438 SNP Chromosome Position: 122691122 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 30000 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,64|C,56)  SNP Type: INTRON Context (SEQ ID NO: 523): GTTTATTCCCAGGTATCACACTTCAAGGAACACAGATAAACAGAAGCGCATTTACCCCAAATGCACAGAGACTGGGGAAAGACTGCTCAGTGTCTTTCCA W GGAGGCAGGACTGACTCCAGGGATAGGAGGCTAAGTTGCCTTTTGTGACCTCAAGGGAGACAGACAGACTTCAGCTCAGTACAAAGAAAGAGGAGAATGT Celera SNP ID: hCV15875924  Public SNP ID: rs2269059 SNP Chromosome Position: 122722293 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 61171 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,108|A,12)  SNP Type: INTRON Context (SEQ ID NO: 524): AATGTGTATTAATTTTGTTAAGAGGAAAGAATAAAACAAGCTAAAAACAACAGTCCTAGAGCATTCAAGCAGGTAAGGGCCTTTTGCAAGTGAGGCATAG W GGCTCACAGAGTTGAGGGTCTGCTTGTGTCTCACAGCCGATCCACCAAGAGCCAAACAGTGAGGCTCAGGGAGTTACTCCACGGAGCAGCATATCATATT Celera SNP ID: hCV15875965  Public SNP ID: rs2191959 SNP Chromosome Position: 122723655 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 62533 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,108|A,12)  SNP Type: INTRON Context (SEQ ID NO: 525): ACATGGCACATGACTGTATCTTCATAAAGGCTTGTATCCAGAATATATAGAGAACTCTTACAACCTAATAAGAGACAAATGACCTAATAAAAAATGGGCA Y AGCCAGGCTCAGTGGCTCAACACCTGTAAGCTCAACACTTTGGGAGGCTGAGGCAAGAGGATTACTTGAGGCCAGGAGTTCAAGACAGCCTGGGCAACAT Celera SNP ID: hCV16124825  Public SNP ID: rs2109895 SNP Chromosome Position: 122717648 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 56526 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,51|T,69)  SNP Type: INTRON Context (SEQ ID NO: 526): GGTCACATGGCCAATTCATTGCCAAACCAGGACTAGGACTCAGGCTTCCATGCTCCCCACCTTACCCCCATCACCTTCACACCCATACCTTGTTCCGGAA R GGCCACGGCAGCAGCGCATCATACTCCCCTCTCATGATCACGATGAAGAGCGACAGATGGGTTCTCTTTCCAGTGCCATCTCCATTCAGGTACAGCCGCA Celera SNP ID: hCV16175379  Public SNP ID: rs2239657 SNP Chromosome Position: 122711341 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 50219 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,50|A,70) SNP Type: SILENT MUTATION  Context (SEQ ID NO: 527): TCAGGGAGTTACTCCACGGAGCAGCATATCATATTAACTCTTACCACGTTGCAGAGTGTAAAGTTCCAAGAACATGCATTTGGTCCTTACTCTTACTCTC Y GAGGGCCTGCCGATGGAGAGGTTGCTGAGAAGCAGATGGGAGAGTGCTCAAAACCAGCTCTGGGTGGGACAGGAAATTCCCCTGAACTCTCTGAATGAGA Celera SNP ID: hCV29005976  Public SNP ID: rs7037195 SNP Chromosome Position: 122723821 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 62699 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,63|C,57)  SNP Type: INTRON Context (SEQ ID NO: 528): GCTCTGGGTGGGACAGGAAATTCCCCTGAACTCTCTGAATGAGAGGGACCAGCTCAGAGAAAGGAGAAGGAGGTGTGGACACTCGCCTGCCTCTGGTCCA R CGGTAGGGGGATAGCTGCCCTGCCAGCACTGCTATCACGGTCTGGACATCACAGATCCTGGAAAGGCCTTGCAGAGCTGACTTAATATCCTCATTTTACA Celera SNP ID: hCV29005978  Public SNP ID: rs7021206 SNP Chromosome Position: 122723978 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 62856 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,50|A,64)  SNP Type: INTRON Context (SEQ ID NO: 529): GCTGCATTGACTATTTGCGAGATATTTTGTCTTCTTGTTTTTTATCAATTAGGTCTACATACTACATTCAATTAGAGATTTTGATTGATATGATTAAAAC W GTGTGATCATAAAAGACTGACTCAGATATAGTTAATTAAAGATACCTTTAAAGTTTTCCCCACGTTAAAATACAGAGGTGTCATTTTATTAATGAACTCC Celera SNP ID: hCV29006006  Public SNP ID: rs7034390 SNP Chromosome Position: 122686309 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 25187 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,52|T,68)  SNP Type: INTRON Context (SEQ ID NO: 530): TATTTCTTAGAAAAAAAAATTAAAATCTGAGGCAAGTATGACCAAGTGTCAAGATGTAACAGAGCTGGGTGGTTGATCCATAGTTGTTCTCTCTGATCCT Y CTCCTTCTCAAGTCTAAAACTTTTCCATGTTTGAGATATTTGGTGATTTTAAAGGTGGGAGGGGCAGGAAGCTATGAGGAGATTGCAGCAGAGGAGGTTT Celera SNP ID: hCV30830638  Public SNP ID: rs10985073 SNP Chromosome Position: 122683676 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 22554 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (T,64|C,56)  SNP Type: INTRON Context (SEQ ID NO: 531): GGCCTCTAAGAGAGAATTTCTGCAATCTATGGGCAGGGGCCTCTAAGAGAGAATTTCTGCAATCTACGGGAGGTTGCCCAGATGTAGCCTCTGTGGGGCC W TTCAATTCTACGGGAAAAGGATTCAAAGAGTTAAGTGTTTGAATTAAAAATTGATGGACTCGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTT Celera SNP ID: hCV30830725  Public SNP ID: rs7864019 SNP Chromosome Position: 122732689 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 71567 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,51|T,69) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 532): AGGAGCAGCCGACACCTGCAAAGGGGCACCCAATTCCAGCCTCAGCCACCTCGGGGTGAGCCTGGAAATAATAATCACATCACTGAATGTTATAGCGATC Y CTGTGGCTACCCTGGGGCTCTCTTCAATGCACCAGGATCCACCAGGGCAGGAGATGGCTTGGGCCACATGACTTTGCACACTGCTGTTCCCTTTGGCTAT Celera SNP ID: hCV16175378  Public SNP ID: rs2239656 SNP Chromosome Position: 122716439 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 55317 Related Interrogated SNP: hCV25763321 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,37|T,1) African American (C,35|T,3) total (C,72|T,4) SNP Type: INTRON;PSEUDOGENE  SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,118|T,2) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 533): CACTTCCCGCAGATGAGGATCTCATTCAGCGGCCCTGATGTCTTCCCTAGGCAGATGTTGCACTTGGGCTCCTCTCCTGGAACACCGGCTGAAAGAGAGG S CCTCGAGGGTCGGGTCCAGCTCACAGGAATGGAAGTTTTATACTCACATTCCAGATGCCCAGCCTCTAATGTCTGCTAGGCCTAGCGCTGGGCCCCACAT Celera SNP ID: hCV25757804  Public SNP ID: rs4836833 SNP Chromosome Position: 122672650 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 11528 Related Interrogated SNP: hCV8780517 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) Related Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP: hCV25612709 (Power=.6) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51)  SNP Source: Applera Population(Allele,Count): Caucasian (C,28|G,12) African American (C,23|G,13) total (C,51|G,25) SNP Type: INTRON;PSEUDOGENE  SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (G,43|C,77) SNP Type: INTRON;PSEUDOGENE  Context (SEQ ID NO: 534): AAAATTGCTTTTAGTCTACAGGTCCCCTCTCCATCTCTTTTTTTCTTTGCATTTTATTTTGGTTGAAGAATAAATATGTTTTTATGTGTGAAAGGTTTGT R TGTATACATTAAACACATTTTGATACGTGTTTGTCTTATTTCCCCAGCATGCTGAAAATTTTGTAAGGGTAGAAATGGGATCTCTTCGGCCGGGCGCAGT Celera SNP ID: hCV1761881  Public SNP ID: rs3933326 SNP Chromosome Position: 122673769 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 12647 Related Interrogated SNP: hCV22272588 (Power=.7) Related Interrogated SNP: hCV8780517 (Power=.7) Related Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV25612709 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,44|G,76)  SNP Type: INTRON Context (SEQ ID NO: 535): ACTCTGCTAAGCTCTTAGGTCCATGATCTCATTTAATCCTCTAACCACTCTCATGCCAATTGTGTAGTGGAGGAGACCGAAGCTTGGACAGATGAGGCAC R GATTAGAACCCTGAAGCTTGGGTTCTGAACCATGAGACAGTGTTGGTTTTTGTGTAGTTTTATGTTTGTATGGTTCTTTTTTTTTTTTTCTTTTTTTTTT Celera SNP ID: hCV2783593  Public SNP ID: rs1548783 SNP Chromosome Position: 122698460 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 37338 Related Interrogated SNP: hCV2783620 (Power=.9) Related Interrogated SNP: hCV11266229 (Power=.8) Related Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP: hCV11720414 (Power=.8) Related Interrogated SNP: hCV1761894 (Power=.8) Related Interrogated SNP: hCV2783597 (Power=.8) Related Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP: hCV2783634 (Power=.8) Related Interrogated SNP: hCV7577344 (Power=.8) Related Interrogated SNP: hCV30830725 (Power=.8) Related Interrogated SNP: hCV29006006 (Power=.8) Related Interrogated SNP: hCV29005978 (Power=.8) Related Interrogated SNP: hCV2783641 (Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783621 (Power=.8) Related Interrogated SNP: hCV2783618 (Power=.8) Related Interrogated SNP: hCV2783604 (Power=.8) Related Interrogated SNP: hCV2783590 (Power=.8) Related Interrogated SNP: hCV2783586 (Power=.8) Related Interrogated SNP: hCV16175379 (Power=.8) Related Interrogated SNP: hCV15849116 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783589 (Power=.7) Related Interrogated SNP: hCV2783582 (Power=.7) Related Interrogated SNP: hCV25751916 (Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV16234795 (Power=.7) Related Interrogated SNP: hCV1761888 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (A,51|G,67) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 536): GTCGGTACTCTTCCCTTTTCCCCATCCTCTGCATTTCACAATATTCTCAGGCTGAGCTTAAAGGCCTGAAGCCTTCCCTCCTTCACCAGCTGGATCTGGG R TTCTGTGCTTTCTCTAAGCTTCTCCTACTCTCAATCATAATGATCTACTTATCTGCTCATTTCCTCCACTGAACTAAGAGTTTCTTGAGTCCAGAGTGCA Celera SNP ID: hCV2783607  Public SNP ID: rs9886724 SNP Chromosome Position: 122704840 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 43718 Related Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP: hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795 (Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP: hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783625 (Power=.9) Related Interrogated SNP: hCV2783638 (Power=.9) Related Interrogated SNP: hCV2783655 (Power=.9) Related Interrogated SNP: hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783633 (Power=.9) Related Interrogated SNP: hCV2783604 (Power=.9) Related Interrogated SNP: hCV2783620 (Power=.8) Related Interrogated SNP: hCV2783653 (Power=.8) Related Interrogated SNP: hCV11266229 (Power=.7) Related Interrogated SNP: hCV2783590 (Power=.7) Related Interrogated SNP: hCV11720414 (Power=.7) Related Interrogated SNP: hCV2783597 (Power=.7) Related Interrogated SNP: hCV7577344 (Power=.7) Related Interrogated SNP: hCV30830725 (Power=.7) Related Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP: hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783634 (Power=.7) Related Interrogated SNP: hCV2783621 (Power=.7) Related Interrogated SNP: hCV2783618 (Power=.7) Related Interrogated SNP: hCV16175379 (Power=.6) Related Interrogated SNP: hCV1761888 (Power=.6) Related Interrogated SNP: hCV2783641 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783586 (Power=.6) Related Interrogated SNP: hCV2783589 (Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related Interrogated SNP: hCV15849116 (Power=.51) SNP Source: dbSNP; Celera Population(Allele,Count): Caucasian (A,60|G,54) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 537): CTCACCTGGGCCAGGAGGCCTAGAATGAGAGACTTTCTGGGCTGGAAGGAAACTTAAAAGTCTTCAAATCCAACCCCCAATTTGAAGTCCTAGTGGAGCC S TCTGGGTTTGCTTGTTCACCTCCAATGACGAGCCTGGACAGACTGCATTCAAACTGGCACCCCATCCCTTCCACCCGGTCCTGTTTCTGACCCTGGAGAA Celera SNP ID: hCV2783609  Public SNP ID: rs2241003 SNP Chromosome Position: 122706598 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 45476 Related Interrogated SNP: hCV2783620 (Power=.9) Related Interrogated SNP: hCV11266229 (Power=.8) Related Interrogated SNP: hCV11720413 (Power=.8) Related Interrogated SNP: hCV11720414 (Power=.8) Related Interrogated SNP: hCV16175379 (Power=.8) Related Interrogated SNP: hCV16234795 (Power=.8) Related Interrogated SNP: hCV1761894 (Power=.8) Related Interrogated SNP: hCV2783582 (Power=.8) Related Interrogated SNP: hCV2783586 (Power=.8) Related Interrogated SNP: hCV2783597 (Power=.8) Related Interrogated SNP: hCV2783641 (Power=.8) Related Interrogated SNP: hCV2783638 (Power=.8) Related Interrogated SNP: hCV2783634 (Power=.8) Related Interrogated SNP: hCV2783633 (Power=.8) Related Interrogated SNP: hCV2783625 (Power=.8) Related Interrogated SNP: hCV2783621 (Power=.8) Related Interrogated SNP: hCV2783618 (Power=.8) Related Interrogated SNP: hCV2783608 (Power=.8) Related Interrogated SNP: hCV2783604 (Power=.8) Related Interrogated SNP: hCV7577344 (Power=.8) Related Interrogated SNP: hCV30830725 (Power=.8) Related Interrogated SNP: hCV29006006 (Power=.8) Related Interrogated SNP: hCV29005978 (Power=.8) Related Interrogated SNP: hCV2783590 (Power=.8) Related Interrogated SNP: hCV25751916 (Power=.8) Related Interrogated SNP: hCV15849116 (Power=.7) Related Interrogated SNP: hCV1761888 (Power=.7) Related Interrogated SNP: hCV30830638 (Power=.7) Related Interrogated SNP: hCV2783655 (Power=.7) Related Interrogated SNP: hCV2783653 (Power=.7) Related Interrogated SNP: hCV2783589 (Power=.7) Related Interrogated SNP: hCV15870898 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (G,51|C,65) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 538): GTCCCTCCACATGCTCTCCACTACAGCCACACACAGCCTCTCTCTTTCCCCGCGGGCCTACTCGGGTCTCCTCCTTGTGGCCATGGCGCTGGGCACCTGG Y GTTGTGACTATCTGTTCACAGGGAGAGAGTCCAGTGCCTGTTTCTGTGTGGTGCGTGTGTGTACTCCTGTGAGACTGGGCAGGATGATGTCTACGGCATT Celera SNP ID: hCV16186951  Public SNP ID: rs2297574 SNP Chromosome Position: 122678090 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 16968 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,118|C,2)  SNP Type: UTR5;INTRON Context (SEQ ID NO: 539): AGAGACTGTGGCAGGCAGGCATACACACGCACATGCTCGCAGGATGGCTGGCTTACCCAAGATTTCAAAAGAAGTTGGAAATCTGGATTTTTATGTGAAA Y GACTTGATTTTTAGAACACCCTATAAGCCAAAAAATAAACCCAAACCAAATGAGCATCCCTATGAACTGTGTCTGTGGGCCACTATTTGTGACCTCTGGT Celera SNP ID: hCV29005991  Public SNP ID: rs7863127 SNP Chromosome Position: 122737851 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 76729 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,118|T,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 540): TCTGAACCGCTGCACAAACCACCACCCAGATGCCTGCACTCTGAATTAAAATTGCCAGTTACTTTGCATCCTTCTCTAAACTAAGCTTTATGAATTTAGA S ACTGTGTTTCATTTGCTGGTGCATCCCATCACCTGGCACTATGCCCAGCAGAGCACAGAAGGTGCTCAATACGTACTGGTGGGATTGTACCCACAGGCTC Celera SNP ID: hCV29005993  Public SNP ID: rs6478491 SNP Chromosome Position: 122738311 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 77189 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,118|C,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 541): GCACTGTCCTCCCAACCTTGTGGGCAGTTGCAGATGGGACCTGCCCCAGGCTGCTTTACAGATGGGAACCTAAGTCAGATGGTGGTAGTGAGGAGAGGTT R GAGGATACTGGCCCATTGCAAGTGTGTGCCAGTGTTATTACTAGCAAGGGATCTTTTGTGATTTTTTTTTACGTTTTTGAAAATAAAAGAATAAATAGCT Celera SNP ID: hCV30830801  Public SNP ID: rs10985095 SNP Chromosome Position: 122738904 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 77782 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,118|G,2) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 542): TACACACCAGCCATAGGCATAGATACACAAGGGGGAACACACTGTACACAACAGAGACACACAACAGAACATGCATGTAAGGTAGACGGACATAACACAT R AAGTCACAACACAGACGGGCAAGAGACACAAGTTTTCCTGAAAAAGTGGCATTCAGATAGGTTGTGGAAATAGGTTAGTGGGTGTGCCAGGTGGAGGGAA Celera SNP ID: hCV30830909  Public SNP ID: rs11794516 SNP Chromosome Position: 122680051 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 18929 Related Interrogated SNP: hCV11720413 (Power=.9) Related Interrogated SNP: hCV15870898 (Power=.9) Related Interrogated SNP: hCV16234795 (Power=.9) Related Interrogated SNP: hCV2783582 (Power=.9) Related Interrogated SNP: hCV25751916 (Power=.9) Related Interrogated SNP: hCV2783608 (Power=.9) Related Interrogated SNP: hCV2783604 (Power=.9) Related Interrogated SNP: hCV2783633 (Power=.9) Related Interrogated SNP: hCV2783638 (Power=.9) Related Interrogated SNP: hCV30830638 (Power=.9) Related Interrogated SNP: hCV2783625 (Power=.9) Related Interrogated SNP: hCV2783653 (Power=.8) Related Interrogated SNP: hCV2783655 (Power=.8) Related Interrogated SNP: hCV11266229 (Power=.7) Related Interrogated SNP: hCV2783590 (Power=.7) Related Interrogated SNP: hCV7577344 (Power=.7) Related Interrogated SNP: hCV29006006 (Power=.7) Related Interrogated SNP: hCV29005978 (Power=.7) Related Interrogated SNP: hCV2783621 (Power=.7) Related Interrogated SNP: hCV2783634 (Power=.7) Related Interrogated SNP: hCV2783620 (Power=.7) Related Interrogated SNP: hCV11720414 (Power=.7) Related Interrogated SNP: hCV16175379 (Power=.6) Related Interrogated SNP: hCV30830725 (Power=.6) Related Interrogated SNP: hCV2783641 (Power=.6) Related Interrogated SNP: hCV2783618 (Power=.6) Related Interrogated SNP: hCV1761888 (Power=.6) Related Interrogated SNP: hCV1761894 (Power=.6) Related Interrogated SNP: hCV2783586 (Power=.6) Related Interrogated SNP: hCV2783597 (Power=.6) Related Interrogated SNP: hCV2783589 (Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) Related Interrogated SNP: hCV15849116 (Power=.51)  SNP Source: dbSNP Population(Allele,Count): Caucasian (A,64|G,56) SNP Type: MISSENSE MUTATION;ESS;INTRON  Context (SEQ ID NO: 543): TCTGGAGTCAGCCTGGTACCATACTCCAAGCGTACAGAATTCTTTGGAGACTGAGCCAGAGCGTAGGATGGCAATGTGAAGCAGCATGCTCTGAGGAAGA Y GTGAAGGCGCTGGGGCTTTTAGCCTGAAAAGGGAAGCACTCAGGTAGGACAGAATCTGACCCTCCATCCCTGAAGGGCTGTCATGGGGACTAGAAGGTGG Celera SNP ID: hCV30830577  Public SNP ID: rs6478488 SNP Chromosome Position: 122714954 SNP in Genomic Sequence: SEQ ID NO: 86  SNP Position Genomic: 53832 Related Interrogated SNP: hCV25763321 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,116|T,2)  SNP Type: INTRON Gene Number: 10  Gene Symbol: hCG2042142  Gene Name:  Chromosome: 9 OMIM NUMBER:  OMIM Information:  Genomic Sequence (SEQ ID NO: 87): SNP Information  Context (SEQ ID NO: 544): CAACTCTATAGCCCTATGGGCTTTTTGAATAACCAAATGCTCAACAGTTCTGTAATCTTTCAGGTTGCTGTGATCAGTCCCCAAGGAGTCTACACTCTCA M AGAGACTGGGAAAGGCCTGTGAGACAATGGGATTCTTTTTTCTAGAGGTGTAACTCTGCCTGTGTTTGCATGCCACCTCCAGAACCACTAAAATATAATT Celera SNP ID: hCV1452662  Public SNP ID: rs10985051 SNP Chromosome Position: 122647701 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 10731 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,93|C,19) SNP Type: UTR5;UTR3;INTRON  Context (SEQ ID NO: 545): TGTGCTATCTTCCCAGGTGGTGCAGACACCCCCTCCCTCCTTTTCCCTCTCCAGGCCCACAGCCTCCCCAGAGCCCAGGTAGGGAAGGTCCAGATGTACT R TAACAGGATTGCTCATCCCAGGCTATCTCAGAAGTCTGGAAAGCAGGCCTAGAAGGTTGCTGGGCTCTCTGAAGCCAGGCAGGAAGCTACAAATTGGATC Celera SNP ID: hCV8780962  Public SNP ID: rs1837 SNP Chromosome Position: 122658050 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 21080 SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,39|G,81) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 546): CTCACTGCTGGTTTTGTGTGTGTGTGTGTGTGATTTAAAATTACATTCAGTCAACTCTATAGCCCTATGGGCTTTTTGAATAACCAAATGCTCAACAGTT Y TGTAATCTTTCAGGTTGCTGTGATCAGTCCCCAAGGAGTCTACACTCTCAAAGAGACTGGGAAAGGCCTGTGAGACAATGGGATTCTTTTTTCTAGAGGT Celera SNP ID: hCV8780967  Public SNP ID: rs933003 SNP Chromosome Position: 122647650 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 10680 SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,115|T,5) SNP Type: UTR5;UTR3;INTRON  Context (SEQ ID NO: 547): GGAGGTCGAGGCTTCAGTGAGCGGTGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGCTTTCCCCTCTTGTCCTCCACTACCCTCAG R AAACCAAGAAAGACCAGCGTGGAGAGTTGGTCGCCCATCTGCTCTAAGCTGCTGTGTATTCCCCTGTAATGTAAACATCGTGAAGGTGGAGACCCAGTTA Celera SNP ID: hCV26144018  Public SNP ID: rs10739575 SNP Chromosome Position: 122645922 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 8952 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,29|A,91)  SNP Type: UTR3;INTRON Context (SEQ ID NO: 548): CAAAGAGAATGATAATGGTGATGTCCCTGCTTTTTACAACAGATCATGTTCTGATATATATGCAAATCTGTGTAAAGTAAACCCTACCTAAAATGTACTG K GGACCCAAGATGGACTGCCTGTATTGCTTCCAGGATAAAGTCCAATTTCTAGCTCTGGTTTTTATAACCTTGCTTCAGCTCACCTTTTCCGTCATCATCC Celera SNP ID: hCV30829528  Public SNP ID: rs13291973 SNP Chromosome Position: 122654694 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 17724 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,107|T,9) SNP Type: UTR5;PSEUDOGENE  Context (SEQ ID NO: 549): TTTCTCATTTCCTTCCCTCTCTCCCTTACACCCTCAAAAGAGAGAGACATAATATACATTCTCAAGGTCATATAAGCTATATAATGAAAGCTACCTTTTT Y TCCCCAGTGATGTTATTTCCTCAGTGGCTCACACCATCTGTAGTCATAGTTCCCAAATTTGGCCATGCGGTCTATCCCTGAACTCCAGCCTCAATCTATT Celera SNP ID: hCV1452665  Public SNP ID: rs4837796 SNP Chromosome Position: 122650109 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 13139 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV15870898 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783620 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV30830638 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) Related Interrogated SNP: hCV2783638 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783608 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV16234795 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,58|T,62)  SNP Type: INTRON Context (SEQ ID NO: 550): CCCAATTTTGGTTTCCCTCCAGATGAGGCAGAATTTGAATGTTGGTTCCAAAAATTCTCTTTCAAACCCCCACTGGCAAGGGCTTCCCTTTGAGGGAACC R AATGATGCAGGCTCTTTAAAAATTTCAACCTATCCCAAAAAGTGATTGTCCATTTCAGGGCAGGGCAAGGGATATGAAAGAGGGTGAGTCCCCTGTGCTT Celera SNP ID: hCV8780961  Public SNP ID: rs914842 SNP Chromosome Position: 122658792 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 21822 Related Interrogated SNP: hCV8780962 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51) Related Interrogated SNP: hCV25612709 (Power=.51) Related Interrogated SNP: hCV8780517 (Power=.51) SNP Source: dbSNP; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,30|G,90) SNP Type: MICRORNA;UTR3  Context (SEQ ID NO: 551): AATCAAAAATAAAAGTTGTCCTACTATTTTCAGACCCACTTCCCTATTAATAGTTTCTGGTGTACCTTTGCAGATATTTGCAATGTTATACAAGTTTTAC M TGCCTGTGGGGGTTGGGAAGATTGTAATCCTTTTTAAAAATTACAGGTTAAAATTATAGATTGATATACCCTGCGATTTTCTTTTTCATTCAACAACACA Celera SNP ID: hCV30829523  Public SNP ID: rs12343516 SNP Chromosome Position: 122643290 SNP in Genomic Sequence: SEQ ID NO: 87  SNP Position Genomic: 6320 Related Interrogated SNP: hCV22272588 (Power=.9) Related Interrogated SNP: hCV11720413 (Power=.51) Related Interrogated SNP: hCV25751916 (Power=.51) Related Interrogated SNP: hCV2783604 (Power=.51) Related Interrogated SNP: hCV2783633 (Power=.51) Related Interrogated SNP: hCV8780962 (Power=.51) Related Interrogated SNP: hCV2783625 (Power=.51) Related Interrogated SNP: hCV2783582 (Power=.51) Related Interrogated SNP: hCV1917481 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,57|C,63) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON  Gene Number: 11 Gene Symbol: FBXW2 - 26190 Gene Name: F-box and WD repeat domain containing 2  Chromosome: 9 OMIM NUMBER:  OMIM Information:  Genomic Sequence (SEQ ID NO: 88): SNP Information  Context (SEQ ID NO: 552): AAGTCACTGTACATATCTCATATAATCAACACTTGTCATTCTCAAAGCTCAAGACTGGTTCAAGATTACACCCTATGAAATACAAAACAAAACCCAAAAA R CAGTTTCAACATCTCTTACCTGTACAGAGAAGTCCATCTTTGTAGTAAAGTGCATACACTCTGGCACTGTGTCCAATTAATGACGAGGTTTCAAAGGCTT Celera SNP ID: hCV25612709  Public SNP ID: rs7026635 SNP Chromosome Position: 122589848 SNP in Genomic Sequence: SEQ ID NO: 88  SNP Position Genomic: 33577 SNP Source: Applera Population(Allele,Count): Caucasian (A,8|G,2) African American (A,15|G,7) total (A,23|G,9) SNP Type: MICRORNA;UTR3;INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,40|A,80) SNP Type: MICRORNA;UTR3;INTRON  Context (SEQ ID NO: 553): GATGCCACTAATCTTGTGAATAATGCTGCATTGAATGTGGGGAGTGCAGATATCTCTTTAACATACTGATTTAATATCTTTTGGATATATTTCCAGTAGC R GAATTGCTAGATTGTGTGGCAGTTCTATTTTTAATTTTGTGAGGAACCTCCATAATGGCTGTATTATTGGTTTACCATAATGGCTCATTGTGGTTTTACT Celera SNP ID: hCV1452636  Public SNP ID: rs10985044 SNP Chromosome Position: 122603331 SNP in Genomic Sequence: SEQ ID NO: 88  SNP Position Genomic: 47060 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,100|A,18)  SNP Type: UTR5 Context (SEQ ID NO: 554): TGCTTGATAGCACAGTCCAATAATATAGACAATAAGAGAGACACATATCCAGTAGATGGTAGAGCATGGCCAAGGTTCCAAGCATCCTGACTTCATTTAG R GTACTTGAAACATGGGAAATAAAAATTGATTATGTGGGGTGGAAGTCAACTACGGTGTCCTAAAAGTAAGGTCTCAAGAGAGCAAATTTGATTTGCTAAG Celera SNP ID: hCV8780973  Public SNP ID: rs1577001 SNP Chromosome Position: 122597128 SNP in Genomic Sequence: SEQ ID NO: 88  SNP Position Genomic: 40857 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,118|A,2)  SNP Type: INTRON Context (SEQ ID NO: 555): ACAGAGGGAAAGAGAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAGAGATAAGTAAAGATAGGAATTGTGATTCTCCAATGGTTAAGAG Y GAGCTTTGGGGCTGGGCACGGTGGCTCTCACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAAACCAGCCT Celera SNP ID: hCV30829490  Public SNP ID: rs7873274 SNP Chromosome Position: 122599313 SNP in Genomic Sequence: SEQ ID NO: 88  SNP Position Genomic: 43042 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,14|T,106)  SNP Type: INTRON Context (SEQ ID NO: 556): TTTATATACATACACACACACACACACACACACACACACACACACACACACATACACACACACACATATATACATACATGGAATGGAGTTATTCAGCCTT R AAAAGGAATAAAATTGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTTGAGAC Celera SNP ID: hCV16234804  Public SNP ID: rs2416800 SNP Chromosome Position: 122583824 SNP in Genomic Sequence: SEQ ID NO: 88  SNP Position Genomic: 27553 Related Interrogated SNP: hCV22272588 (Power=.9) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (A,65|G,55)  SNP Type: INTRON Gene Number: 12  Gene Symbol: LOC402377 - 402377 Gene Name: similar to UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypept ide 4  Chromosome: 9  OMIM NUMBER:  OMIM Information: Genomic Sequence (SEQ ID NO: 89):  SNP Information Context (SEQ ID NO: 557): AAGTCACTGTACATATCTCATATAATCAACACTTGTCATTCTCAAAGCTCAAGACTGGTTCAAGATTACACCCTATGAAATACAAAACAAAACCCAAAAA R CAGTTTCAACATCTCTTACCTGTACAGAGAAGTCCATCTTTGTAGTAAAGTGCATACACTCTGGCACTGTGTCCAATTAATGACGAGGTTTCAAAGGCTT Celera SNP ID: hCV25612709  Public SNP ID: rs7026635 SNP Chromosome Position: 122589848 SNP in Genomic Sequence: SEQ ID NO: 89  SNP Position Genomic: 4837 SNP Source: Applera Population(Allele,Count): Caucasian (A,8|G,2) African American (A,15|G,7) total (A,23|G,9) SNP Type: MICRORNA;UTR3;INTRON  SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,40|A,80) SNP Type: MICRORNA;UTR3;INTRON  Context (SEQ ID NO: 558): GATGCCACTAATCTTGTGAATAATGCTGCATTGAATGTGGGGAGTGCAGATATCTCTTTAACATACTGATTTAATATCTTTTGGATATATTTCCAGTAGC R GAATTGCTAGATTGTGTGGCAGTTCTATTTTTAATTTTGTGAGGAACCTCCATAATGGCTGTATTATTGGTTTACCATAATGGCTCATTGTGGTTTTACT Celera SNP ID: hCV1452636  Public SNP ID: rs10985044 SNP Chromosome Position: 122603331 SNP in Genomic Sequence: SEQ ID NO: 89  SNP Position Genomic: 18320 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (G,100|A,18)  SNP Type: UTR5 Context (SEQ ID NO: 559): TGCTTGATAGCACAGTCCAATAATATAGACAATAAGAGAGACACATATCCAGTAGATGGTAGAGCATGGCCAAGGTTCCAAGCATCCTGACTTCATTTAG R GTACTTGAAACATGGGAAATAAAAATTGATTATGTGGGGTGGAAGTCAACTACGGTGTCCTAAAAGTAAGGTCTCAAGAGAGCAAATTTGATTTGCTAAG Celera SNP ID: hCV8780973  Public SNP ID: rs1577001 SNP Chromosome Position: 122597128 SNP in Genomic Sequence: SEQ ID NO: 89  SNP Position Genomic: 12117 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,118|A,2)  SNP Type: INTRON Context (SEQ ID NO: 560): ACAGAGGGAAAGAGAGAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAGAGATAAGTAAAGATAGGAATTGTGATTCTCCAATGGTTAAGAG Y GAGCTTTGGGGCTGGGCACGGTGGCTCTCACCTGTAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAAACCAGCCT Celera SNP ID: hCV30829490  Public SNP ID: rs7873274 SNP Chromosome Position: 122599313 SNP in Genomic Sequence: SEQ ID NO: 89  SNP Position Genomic: 14302 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,14|T,106)  SNP Type: INTRON Gene Number: 13  Gene Symbol: STOM - 2040  Gene Name: stomatin Chromosome: 9  OMIM NUMBER:  OMIM Information: Genomic Sequence (SEQ ID NO: 90):  SNP Information Context (SEQ ID NO: 561): CTAAACTGCCACTTTTTAACGGACACTTTTTTCCTTCTGCCTTCACAGAGTGCAAATAAAACACTTCATGTTGTAAATTGATGAGAGCAGTCCTGCCTGG R TGGGGCAAGACAGAAAGGCTGGAAGTTTAGTCTCAAAAACACATGCTATTCAGTTGCAGCAGCACTTTTTAGGGGTAACAGTAGGCCAAATTGAAAAGTC Celera SNP ID: hCV1434291  Public SNP ID: rs17086 SNP Chromosome Position: 123165341 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 34167 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,76|G,42)  SNP Type: INTRON Context (SEQ ID NO: 562): CAGCTGATTTACTTTCAGATCTATTAACCTTAGCACTACTGGAAATCATGTGGAGTAATAAATCCACTCATCACTGAGATTTTATTATTGTAAAGTTCAA M AGATAACTGGATTTCCTCTGCTGAGAATCTGACTGTGAGTCATAAGCATTATCCTACACAATAAGAAAGGATGGGCTAAGGAATTACTGAAATACCTAAA Celera SNP ID: hCV1434292  Public SNP ID: rs12554081 SNP Chromosome Position: 123165145 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 33971 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (C,106|A,14)  SNP Type: INTRON Context (SEQ ID NO: 563): AGTGAAGAACACATCAGTTCCTTCAGAAACCCTGAGGCTTCTCAAAGAAGGCTCTCCTCTGTTCCAGGAGAAGGAAGGGACAGATGAGAAGTCACTTCAA S TTCCCAGAATACTCAGAAGCTGAACTTGTCAAGGTTTAGATGTGGCAAAGCAGGCCAGGCATGGTGACTCATGCATGTAATCCCAGCATTTTGGGAGGCC Celera SNP ID: hCV7577155  Public SNP ID: rs1560980 SNP Chromosome Position: 123133818 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 2644 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,114|C,6) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;MICRORNA;UTR3;INTRON Context (SEQ ID NO: 564): GATCCCTGGACAAGGGAAATGGAACTTATAGCTAAGATGCTGTGGATAAAGCTGGCTTTACAAATAATCAGAATAGATGACTCCAATGTCATGTTCTTTG M GGGGTCCTGGAAAGGACCACCCAGCCCTCTAAATTGCTTTCACTGCCATCCTGCCTGAAATTCCATCTTTAGAAACACTGTAATTCCTCTGGATCACTAA Celera SNP ID: hCV8605400  Public SNP ID: rs367395 SNP Chromosome Position: 123171333 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 40159 SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,8|C,112)  SNP Type: INTRON Context (SEQ ID NO: 565): CGTAGCCCTGTTCCTTCCTGTGTTCCTGAGCAGGGTGGTGGAGAGCCCACGTGGGTATCATGCCTTTAAAGGAGGATGGTGCCCAGGGCAGGGGGTGGGC W GTAGGGACAGTAGGACCATAGACCCTCTTCTTTGTCAACTCCTGTCCTGAGTCACCCTCTCCCTGGTGTGGGAGGCACTAAGAATTCCTGGGGTTTCCTT Celera SNP ID: hCV29005979  Public SNP ID: rs7039494 SNP Chromosome Position: 123134411 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 3237 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (A,100|T,12)  SNP Type: INTRON Context (SEQ ID NO: 566): AAGGCAAACACTTAACAATGTTATTTACTCCAGGGGGATTTTTATCTCCCTGCCTGCTTCCTTTTTCTTTGAACAAATGTTTTTGTATACCTACTATGTA Y TTGATACTGGGCTACTACAGTGAAGAAGGACACAATCTCTATTTTCAAAAGTGTGGTCTAAAGGCCAGGCTTGGTAGCTCATGCCTGTTGTCCCAGCACT Celera SNP ID: hCV30830686  Public SNP ID: rs10818531 SNP Chromosome Position: 123168845 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 37671 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,113|T,5)  SNP Type: INTRON Context (SEQ ID NO: 567): AAAAAAGAAGCCAAAAATAAGTAAGAGATGGGTGGTATGGATGGAATGATGACCCACTTGCTCCGAAGTTGGAACTGTTAATTTGACCTTAATATGGAAT Y GGGAGAATAAGTATGGTACACACAGTCATAAAAGAATGAGGTAACTCTACATGTACTGATACGTCCATAGATATTAATATTAAATGAAAAAAGCAGAGCG Celera SNP ID: hCV30830668  Public SNP ID: rs12340264 SNP Chromosome Position: 123149742 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 18568 SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,109|T,11)  SNP Type: INTRON Context (SEQ ID NO: 568): GTGCTCGAAAATGGTTAAAAATAATGAAAGCACCTAGGCCACAGCAGAACCTAGTATTCAACCACGGAGGCAAAGGCCCAATGTACTGTGGATCAGAAAG R ATGTTTTTGGCTGTAAGCAGTGGAGGGCTAACTCAAACCAAATTAAACTGTAAGCACACTTATGTGCTCTCATACATAATCAGTTCAGAGTTGAGGGGGA Celera SNP ID: hCV578200  Public SNP ID: rs767769 SNP Chromosome Position: 123138157 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 6983 Related Interrogated SNP: hCV30830641 (Power=.6) SNP Source: dbSNP; Celera; ABI_Val; HGBASE Population(Allele,Count): Caucasian (G,75|A,45) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 569): CAAAAAGAATAAGGAAAGTAAATAAGCATAAATGTCTTATTTCCTAAATATTTTAAGGATTTTCTGTAGTTTTCCTGCATTCAAATGTTTCAGGCCATAC M AGAGGAAAAAAATAGGTGAGAGCAACAGCAATAATTTTAAATTTGGACCTCTCAGTCTAAAATAATGCTGCAATAGCCCTTTACCCTTTTAAAACAACAT Celera SNP ID: hCV1434290  Public SNP ID: rs2416829 SNP Chromosome Position: 123166826 SNP in Genomic Sequence: SEQ ID NO: 90  SNP Position Genomic: 35652 Related Interrogated SNP: hCV30830641 (Power=.51) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (A,75|C,45)  SNP Type: INTRON Gene Number: 14  Gene Symbol: hCG2021450  Gene Name:  Chromosome: 9 OMIM NUMBER:  OMIM Information:  Genomic Sequence (SEQ ID NO: 91): SNP Information  Context (SEQ ID NO: 570): GAAGTAGGAGTTTGTTGACTAGCTGGTAGGCAGGAAGGGTTTTCTAGTTAGCAACTTAGCAAGGACAGCTTTGTGAAGGAGCATGGAACATCCAGGCAAC R TGAGTGGACCAGTTAGGAGCTACTGAAATATTCCCATCAAAATACAGGGGCGTACCCCTGGGGCAAGATGACTCTCTGACGTCCACTTACTACTATTCTC Celera SNP ID: hCV3121923  Public SNP ID: rs10985014 SNP Chromosome Position: 122538111 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 17601 SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (A,104|G,16)  SNP Type: INTRON Context (SEQ ID NO: 571): TGGAAACCCAAACTGCACAAATCAATCAGTTTCTCCCTGCAGCCCTGTTGATGAAAACTGGAAGAGTTCAAGAAATAGTTATGTAAAATTTAAATAAAGT Y CATGTTCTTTTTTGTGGGTATTTGTGTGCTTAAGTAATGTAAGTATCATAATCCCTAAGAAAATACTTTCTAACTTTTAAACATTGTTCACTATAAAATT Celera SNP ID: hCV3121925  Public SNP ID: rs4836831 SNP Chromosome Position: 122536391 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 15881 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (C,40|T,76) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON Context (SEQ ID NO: 572): CTAATCCAAACATTCTTCCAGGAAGACACACCAAGGCTCAGAGCAGGAAAGGACTCATTCAAGCTCACATGATAACTTGGCAGCAGAACCAGGCCTGGAA Y GCATATTTCTTCTTGGTGCTGCATTCCTGATTCAGAAGAGCAGCTCTCCCTGCTAAGCAAACAGCAGGTGGGCGGATGTGGTCACTAATCAGTGCACTGG Celera SNP ID: hCV3121928  Public SNP ID: rs10985009 SNP Chromosome Position: 122532860 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 12350 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap Population(Allele,Count): Caucasian (T,41|C,79)  SNP Type: INTRON Context (SEQ ID NO: 573): AGGGAGATAAAAATGGTGCTGTGACACAGAATAATATCCCCTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGTGACATTCAACCTGAAAGCAAAAGGAG W CAACTCTACCAACACTGGAAGGAACAGCAAGTGCAAGACTTTGAAGTTGGAAAGAAACAGAAAGGAAACCAGAATGGGTGAAGCATATTAAGTGAAGGAG Celera SNP ID: hCV3121936  Public SNP ID: rs735110 SNP Chromosome Position: 122528761 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 8251 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,41|A,79) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTERGENIC;UNKNOWN Context (SEQ ID NO: 574): AATCAATTAACAAATAAATGGGTAAATAATCAAGATATTTACAGATTAAGCAAGTGCTACGAGGGAGATAAAAATGGTGCTGTGACACAGAATAATATCC Y CTTAGAGTGATGAAGGAAAGCCTTGCTGAGATGTGACATTCAACCTGAAAGCAAAAGGAGTCAACTCTACCAACACTGGAAGGAACAGCAAGTGCAAGAC Celera SNP ID: hCV3121937  Public SNP ID: rs735109 SNP Chromosome Position: 122528700 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 8190 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (C,41|T,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 575): TTTATTGGGTGTGTGCAATGTGTCAGGTGCAGTCTGGAATTTGGAACTGTCACATACTGGCAGCATGACCTCTTTAAGAGGCAGGAACTTGTTATCTCTG Y CATCCGGTCCCATGTTGGGGAACTATCTATGAATCAGCCAAGATGGGTTCCCAGCCCTCCATCCATCTCCCTTCAAGGCAAAATGGTCTAATGGGAAAAG Celera SNP ID: hCV3121938  Public SNP ID: rs747819 SNP Chromosome Position: 122528262 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 7752 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; ABI_Val; HGBASE Population(Allele,Count): Caucasian (T,41|C,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 576): GTGGGCCTTGTTGGAGCCAATGTGCAGCCTGACTTTTCTCCTAGGCAAATGAGGTGCTCTAAAGGGCCCCAACTGATTTCTCACTTTATTAGTCAGCACC K AGCACAGTGTCAAATACACAGAAATGGCTCAAGAATTGTCTGTGAGCCAGGCACGGTGGCTTATGCCTGTAATCATAGCACTTTGGGAGGCCGAGGTGGG Celera SNP ID: hCV3121944  Public SNP ID: rs2416799 SNP Chromosome Position: 122520687 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 177 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,41|T,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 577): AAATCCTCATAATGGTAAGAAGAAAAGAAAAAATAAAAATTATAGCTGTGACACTCTGTGTAACAGAACATTGACTGGCACTTTTCCTATTTGCCCCAGA R CTGTAGCTAAGGCCCATGAGACCTGGAGCCAAAGGCTTAGGGAAGGACCACAGAACAGCAGGGGTCAGAGTGGGCCTTGTTGGAGCCAATGTGCAGCCTG Celera SNP ID: hCV3121945  Public SNP ID: rs4617229 SNP Chromosome Position: 122520517 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 7 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 578): ACATCTGCAAGTCCTCAAGGAGACAAGACCTGCCCCCTTATCACCTCTTCGGGGGAGAGAGTGGGCCTATCCCATCTGCAGGGAAAGAATGAACACATTG Y TTTTATTTTCCAAGGTGTGTTCCTGTAAATGAAACAATTCACTGCTATGCAACTTTTAGGATTGGCCACTTGAGAGCAGGCCTTGTACTGGACAATGGGG Celera SNP ID: hCV15849071  Public SNP ID: rs2900177 SNP Chromosome Position: 122537466 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 16956 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; HapMap; HGBASE Population(Allele,Count): Caucasian (C,34|T,64)  SNP Type: INTRON Context (SEQ ID NO: 579): CCAGTGCAATCCTGAAGGTGCCTACCATCAACGTCAATGACTCCGTCACCAAGAGCAAAATTTGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATG R CACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTG Celera SNP ID: hCV26144244  Public SNP ID: rs4837792 SNP Chromosome Position: 122523380 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 2870 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; HGBASE Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE MUTATION;ESE;UTR5;UTR3;PSEUDOGENE Context (SEQ ID NO: 580): TGACAACCTCTATGGCTGCCAGGAGTCCCTTATAGATGGCACCAAGTGGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTG R TGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGCATAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGC Celera SNP ID: hCV26144245  Public SNP ID: rs4837793 SNP Chromosome Position: 122523442 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 2932 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val Population(Allele,Count): Caucasian (G,41|A,79) SNP Type: MISSENSE MUTATION;UTR3;TFBS SYNONYMOUS;INTRON;PSEUDOGENE Context (SEQ ID NO: 581): GGACCAAGACGTGATGATTGCCAGCAAGGTAGCAGTGGTAGCAGGCTATGGTGGTGTGGGCAAGGGCTGTGCCCAGGCCTTGCAGGGTTTTGGGGCCTGC R TAATCATCACCGAGACTGACCCCATCAGTGCACTGCAGGCTGCCATGGAAGGCTATGAGGTGACCACCATGGACGAGGCCTGTCAGGAGGGCAACATCTT Celera SNP ID: hCV26144246  Public SNP ID: rs4836830 SNP Chromosome Position: 122523489 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 2979 Related Interrogated SNP: hCV1917481 (Power=.8) Related Interrogated SNP: hCV22272588 (Power=.7) SNP Source: dbSNP; Celera; HapMap; ABI_Val; HGBASE Population(Allele,Count): Caucasian (A,41|G,79) SNP Type: MISSENSE MUTATION;UTR3;INTRON;PSEUDOGENE Context (SEQ ID NO: 582): ACTTTCACAAGCATGGTCAAGGAAGCCATCTGGGAGAAGGTACACATTGAGCTGAGGCCTGAATGAGAACGAGGAGGCAGGCTGGGGAAGACCAGGGAGA S AGAATGGTAAATGCAAAGTCTCATAGACAGACACAAGCTTCGTATGTGTTTGAGAGGGAGAAAAAAGCTGGAATGGGTAGAATATAGCAAATGAGAGAGA Celera SNP ID: hCV29005915  Public SNP ID: rs7044106 SNP Chromosome Position: 122533883 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 13373 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.51) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,34|G,78)  SNP Type: INTRON Context (SEQ ID NO: 583): CACACTCATAATGACAGAGCCAGGCTTTAATCGCATGCATTTTGGCGCTGGAAACTATGCTCCAAACACCGCAAGAAACTGCCTCACTGTGGGACGTCAC Y GCACATTTAGGGGCGGACAACAGGTGCAGGAGGTATAAGGTGTAGGAAGGTAGGAACTGATGGGAGGTCACGTAAATGACATGAAAGTATTTTGCAAACT Celera SNP ID: hCV30830283  Public SNP ID: rs10818474 SNP Chromosome Position: 122529785 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 9275 Related Interrogated SNP: hCV1917481 (Power=.6) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (C,31|T,89) SNP Type: INTERGENIC;UNKNOWN  Context (SEQ ID NO: 584): GAAAAATGTAGAGATGTGGGTACAGATTTGTATAAAGGCTGGTTGTCGAAGCCTTACTTATGCTAAAAAATAGAACTAACCTAAATATCCAATGGGGATT R TTTAAATGAATTATGATTCAACCTTCCACAGAGATTAGAATCATGCTCTTGAAGAACACTGATGATGTAAAAAGTCTGCTAACATATTAAGTGAGAAAGC Celera SNP ID: hCV30830295  Public SNP ID: rs7033339 SNP Chromosome Position: 122543259 SNP in Genomic Sequence: SEQ ID NO: 91  SNP Position Genomic: 22749 Related Interrogated SNP: hCV1917481 (Power=.7) Related Interrogated SNP: hCV22272588 (Power=.6) SNP Source: dbSNP; HapMap Population(Allele,Count): Caucasian (G,44|A,76) SNP Type: TRANSCRIPTION FACTOR BINDING SITE;INTRON 

1. A method of determining whether a human has an altered risk for rheumatoid arthritis, comprising testing nucleic acid from said human for the presence or absence of a polymorphism selected from the group consisting of the polymorphisms represented by position 101 of any one of the nucleotide sequences of SEQ ID NOS:526, 92-525, and 527-584 or its complement, wherein the polymorphism indicates an altered risk for rheumatoid arthritis.
 2. The method of claim 1, wherein the altered risk is an increased risk or a decreased risk.
 3. The method of claim 1, wherein said nucleic acid is a nucleic acid extract from a biological sample from said human.
 4. The method of claim 3, wherein said biological sample is blood, saliva, or buccal cells.
 5. The method of claim 3, further comprising preparing said nucleic acid extract from said biological sample prior to said testing step.
 6. The method of claim 3, further comprising obtaining said biological sample from said human prior to said preparing step.
 7. The method of claim 1, wherein said testing step comprises nucleic acid amplification.
 8. The method of claim 7, wherein said nucleic acid amplification is carried out by polymerase chain reaction.
 9. The method of claim 1, further comprising correlating the presence of the polymorphism with an altered risk for rheumatoid arthritis.
 10. The method of claim 9, wherein said correlating step is performed by computer software.
 11. The method of claim 1, wherein said testing is performed using sequencing, 5′ nuclease digestion, molecular beacon assay, oligonucleotide ligation assay, size analysis, single-stranded conformation polymorphism analysis, or denaturing gradient gel electrophoresis (DGGE).
 12. The method of any one of claim 1, wherein said testing is performed using an allele-specific method.
 13. The method of claim 12, wherein said allele-specific method is allele-specific probe hybridization, allele-specific primer extension, or allele-specific amplification.
 14. The method of claim 1 which is an automated method.
 15. A method of determining whether a human has an altered risk for rheumatoid arthritis, comprising testing nucleic acid from said human for the presence or absence of a first polymorphism which is in linkage disequilibrium with a second polymorphism, wherein the second polymorphism is a polymorphism selected from the group consisting of the polymorphisms represented by position 101 of any one of the nucleotide sequences of SEQ ID NOS:92-584 or its complement, and wherein the first polymorphism indicates an altered risk for rheumatoid arthritis.
 16. The method of claim 15, wherein the altered risk is an increased risk or a decreased risk.
 17. The method of claim 15, wherein the first polymorphism is selected from the group consisting of the polymorphisms in Table
 4. 18. The method of claim 1, wherein said polymorphism comprises at least one polymorphism selected from the group consisting of rs2239657, rs7021880, and rs7021049.
 19. The method of claim 18, wherein said polymorphism comprises a haplotype selected from the group consisting of rs2239657(G)-rs7021880(C)-rs7021049(G) and rs2239657(A)-rs7021880(G)-rs7021049(T).
 20. The method of claim 19, wherein the rs2239657(G)-rs7021880(C)-rs7021049(G) haplotype indicates an increased risk for rheumatoid arthritis and the rs2239657(A)-rs7021880(G)-rs7021049(T) haplotype indicates a decreased risk for rheumatoid arthritis.
 21. The method of claim 18, wherein said polymorphism comprises a diplotype selected from the group consisting of rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs7021049(G) and rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs7021049(T).
 22. The method of claim 21, wherein the rs2239657(G)-rs7021880(C)-rs7021049(G)/rs2239657(G)-rs7021880(C)-rs7021049(G) diplotype indicates an increased risk for rheumatoid arthritis and the rs2239657(A)-rs7021880(G)-rs7021049(T)/rs2239657(A)-rs7021880(G)-rs7021049(T) diplotype indicates a decreased risk for rheumatoid arthritis.
 23. The method of claim 18, further comprising testing nucleic acid from said human for at least one other polymorphism selected from the group consisting of PTPN22 R620W and HLA-DRB1, wherein the PTPN22 R620 allele (CC genotype) and OSE at HLA-DRB1 indicate a decreased risk for rheumatoid arthritis, and the PTPN22 W620 allele (TT or TC genotype) and 2SE at HLA-DRB1 indicate an increased risk for rheumatoid arthritis.
 24. A method of reducing the risk of rheumatoid arthritis in a human, comprising administering to said human an effective amount of a therapeutic agent, said human having been identified as having an increased risk for rheumatoid arthritis due to the presence of a polymorphism selected from the group consisting of the polymorphisms represented by position 101 of any one of the nucleotide sequences of SEQ ID NOS:92-584 or its complement.
 25. The method of claim 24, wherein said therapeutic agent comprises a TNF inhibitor.
 26. A method of reducing the risk of rheumatoid arthritis in a human, comprising: (a) identifying a human who has an increased risk for rheumatoid arthritis due to the presence of a polymorphism selected from the group consisting of the polymorphisms represented by position 101 of any one of the nucleotide sequences of SEQ ID NOS:92-584 or its complement; and (b) administering to said human an effective amount of a therapeutic agent, thereby reducing the risk of rheumatoid arthritis in said human.
 27. The method of claim 26, wherein said therapeutic agent comprises a TNF inhibitor.
 28. The method of claim 26, wherein step (a) comprises testing nucleic acid from said human for the presence or absence of said polymorphism.
 29. The method of claim 12 in which said testing is carried out by using an allele-specific primer selected from the group consisting of the allele-specific primers in Table
 3. 30. The method of claim 1, further comprising selecting said human for inclusion in a clinical trial of a therapeutic agent.
 31. The method of claim 30, wherein said therapeutic agent comprises a TNF inhibitor.
 32. A kit for carrying out the method of claim 1, wherein the kit comprises at least one polynucleotide detection reagent, and wherein the polynucleotide detection reagent selectively hybridizes to said nucleic acid in the presence of said polymorphism and does not hybridize to said nucleic acid in the absence of said polymorphism. 